Canonical Allele Identifier: CA362978631

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759856454
• gnomAD v3: 6-24528102-A-C
• gnomAD v4: 6-24528102-A-C
• MyVariant Identifiers: chr6:g.24528330A>C (hg19) ; chr6:g.24528102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528102A>C , CM000668.2:g.24528102A>C	GRCh38
NC_000006.11:g.24528330A>C , CM000668.1:g.24528330A>C	GRCh37
NC_000006.10:g.24636309A>C	NCBI36
NG_008161.1:g.38134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1279A>C MANE Select	ENSP00000350191.3:p.Asn427His
ENST00000479394.2:n.394A>C
ENST00000672352.1:c.898A>C	ENSP00000500876.1:p.Asn300His
ENST00000672652.1:c.1242A>C
ENST00000348925.2:c.1318A>C	ENSP00000314649.3:p.Asn440His
ENST00000357578.7:c.1279A>C	ENSP00000350191.3:p.Asn427His
ENST00000479394.1:n.394A>C
ENST00000491546.5:c.1195A>C	ENSP00000417687.1:p.Asn399His
NM_001080.3:c.1279A>C MANE Select	NP_001071.1:p.Asn427His
NM_170740.1:c.1318A>C	NP_733936.1:p.Asn440His
NM_001368954.1:c.1135A>C	NP_001355883.1:p.Asn379His