Canonical Allele Identifier: CA3656894

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 568837
• ClinVar RCV Id: RCV000689317
• dbSNP Id: rs764512077
• ExAC: 6:24528328 G / A
• gnomAD v2: 6-24528328-G-A
• gnomAD v3: 6-24528100-G-A
• gnomAD v4: 6-24528100-G-A
• MyVariant Identifiers: chr6:g.24528328G>A (hg19) ; chr6:g.24528100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528100G>A , CM000668.2:g.24528100G>A	GRCh38
NC_000006.11:g.24528328G>A , CM000668.1:g.24528328G>A	GRCh37
NC_000006.10:g.24636307G>A	NCBI36
NG_008161.1:g.38132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1277G>A MANE Select	ENSP00000350191.3:p.Cys426Tyr
ENST00000479394.2:n.392G>A
ENST00000672352.1:c.896G>A	ENSP00000500876.1:p.Cys299Tyr
ENST00000672652.1:c.1240G>A
ENST00000348925.2:c.1316G>A	ENSP00000314649.3:p.Cys439Tyr
ENST00000357578.7:c.1277G>A	ENSP00000350191.3:p.Cys426Tyr
ENST00000479394.1:n.392G>A
ENST00000491546.5:c.1193G>A	ENSP00000417687.1:p.Cys398Tyr
NM_001080.3:c.1277G>A MANE Select	NP_001071.1:p.Cys426Tyr
NM_170740.1:c.1316G>A	NP_733936.1:p.Cys439Tyr
NM_001368954.1:c.1133G>A	NP_001355883.1:p.Cys378Tyr