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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ALDH5A1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000112294	ALDH5A1	1	0	9	ENSG00000112294	ENST00000357578	ENSP00000350191	aldehyde dehydrogenase 5 family, member A1 [Source:HGNC Symbol;Acc:408]	6	24495080	24537435	1	p22.3	24495080	24537435	ALDH5A1	ALDH5A1-001	HGNC Symbol	HGNC transcript name	6	43.11	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7915	408	ALDH5A1	NM_001080	27515

MSeqDR Master Exome Data Set M1: 227 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	6	24495169	G	A	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	1
2	6	24495169	G	A	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	1
3	6	24495178	C	T	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	-	-	5'_UTR	rs200776997	-	T=104/C=6474;T=9/C=3177;T=113/C=9651	lod=25:313	-	-	-	het	13
4	6	24495178	C	T	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	-	-	5'_UTR	rs200776997	-	T=104/C=6474;T=9/C=3177;T=113/C=9651	lod=25:313	-	-	-	hom	1
5	6	24495178	C	T	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	-	-	5'_UTR	rs200776997	-	T=104/C=6474;T=9/C=3177;T=113/C=9651	lod=25:313	-	-	-	het	13
6	6	24495178	C	T	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	-	-	5'_UTR	rs200776997	-	T=104/C=6474;T=9/C=3177;T=113/C=9651	lod=25:313	-	-	-	hom	1
7	6	24495185	G	A	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	-	-	5'_UTR	NA	-	A=10/G=6548;A=1/G=3155;A=11/G=9703	lod=25:313	-	-	-	het	5
8	6	24495185	G	A	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	-	-	5'_UTR	NA	-	A=10/G=6548;A=1/G=3155;A=11/G=9703	lod=25:313	-	-	-	het	5
9	6	24495234	T	G	ENST00000348925	ENSG00000112294	24495080	24537435	ENSP00000314649	ALDH5A1	1	SSDH_HUMAN	c.10T>G	p.C4G	non-syn	rs200793796	-	G=20/T=6540;G=1/T=2971;G=21/T=9511	lod=32:340	DAMAGING	NA	-	het	9
10	6	24495234	T	G	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	c.10T>G	p.C4G	non-syn	rs200793796	-	G=20/T=6540;G=1/T=2971;G=21/T=9511	lod=32:340	DAMAGING	NA	-	het	9
11	6	24495234	T	G	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	c.10T>G	p.C4G	non-syn	rs200793796	-	G=20/T=6540;G=1/T=2971;G=21/T=9511	lod=32:340	DAMAGING	NA	-	het	9
12	6	24495237	A	G	ENST00000348925	ENSG00000112294	24495080	24537435	ENSP00000314649	ALDH5A1	1	SSDH_HUMAN	c.13A>G	p.I5V	non-syn	rs200398000	-	G=0/A=6500;G=7/A=2905;G=7/A=9405	-	DAMAGING	NA	-	het	1
13	6	24495237	A	G	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	c.13A>G	p.I5V	non-syn	rs200398000	-	G=0/A=6500;G=7/A=2905;G=7/A=9405	-	DAMAGING	NA	-	het	1
14	6	24495237	A	G	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	c.13A>G	p.I5V	non-syn	rs200398000	-	G=0/A=6500;G=7/A=2905;G=7/A=9405	-	DAMAGING	NA	-	het	1
15	6	24495242	G	T	ENST00000348925	ENSG00000112294	24495080	24537435	ENSP00000314649	ALDH5A1	1	SSDH_HUMAN	c.18G>T	p.W6C	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
16	6	24495242	G	T	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	c.18G>T	p.W6C	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
17	6	24495242	G	T	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	c.18G>T	p.W6C	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
18	6	24495274	C	T	ENST00000348925	ENSG00000112294	24495080	24537435	ENSP00000314649	ALDH5A1	1	SSDH_HUMAN	c.50C>T	p.S17L	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
19	6	24495274	C	T	ENST00000357578	ENSG00000112294	24495080	24537435	ENSP00000350191	ALDH5A1	1	SSDH_HUMAN	c.50C>T	p.S17L	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
20	6	24495274	C	T	ENST00000491546	ENSG00000112294	24495080	24537435	ENSP00000417687	ALDH5A1	1	-	c.50C>T	p.S17L	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1

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Transcripts and variants in the surrounding ALDH5A1 6:24495080..24537435 region Gbrowse