Canonical Allele Identifier: CA3656974

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 426524
• ClinVar RCV Id: RCV000489901 ; RCV001050829
• dbSNP Id: rs72552284
• ExAC: 6:24533929 G / A
• gnomAD v2: 6-24533929-G-A
• gnomAD v3: 6-24533701-G-A
• gnomAD v4: 6-24533701-G-A
• MyVariant Identifiers: chr6:g.24533929G>A (hg19) ; chr6:g.24533701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533701G>A , CM000668.2:g.24533701G>A	GRCh38
NC_000006.11:g.24533929G>A , CM000668.1:g.24533929G>A	GRCh37
NC_000006.10:g.24641908G>A	NCBI36
NG_008161.1:g.43733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357578.8:c.1597G>A MANE Select	ENSP00000350191.3:p.Gly533Arg
ENST00000479394.2:n.712G>A
ENST00000672352.1:c.1216G>A	ENSP00000500876.1:p.Gly406Arg
ENST00000672652.1:c.1560G>A
ENST00000348925.2:c.1636G>A	ENSP00000314649.3:p.Gly546Arg
ENST00000357578.7:c.1597G>A	ENSP00000350191.3:p.Gly533Arg
ENST00000479394.1:n.712G>A
ENST00000491546.5:c.1513G>A	ENSP00000417687.1:p.Gly505Arg
ENST00000492697.1:n.363G>A
NM_001080.3:c.1597G>A MANE Select	NP_001071.1:p.Gly533Arg
NM_170740.1:c.1636G>A	NP_733936.1:p.Gly546Arg
NM_001368954.1:c.1453G>A	NP_001355883.1:p.Gly485Arg