Canonical Allele Identifier: CA362969702

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503416-G-T
• COSMIC: COSM3860746
• MyVariant Identifiers: chr6:g.24503644G>T (hg19) ; chr6:g.24503416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503416G>T , CM000668.2:g.24503416G>T	GRCh38
NC_000006.11:g.24503644G>T , CM000668.1:g.24503644G>T	GRCh37
NC_000006.10:g.24611623G>T	NCBI36
NG_008161.1:g.13448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.592G>T MANE Select	ENSP00000350191.3:p.Ala198Ser
ENST00000672352.1:c.355G>T	ENSP00000500876.1:p.Ala119Ser
ENST00000672557.1:c.510G>T
ENST00000672652.1:c.513G>T
ENST00000675422.1:n.1352G>T
ENST00000348925.2:c.592G>T	ENSP00000314649.3:p.Ala198Ser
ENST00000357578.7:c.592G>T	ENSP00000350191.3:p.Ala198Ser
ENST00000491546.5:c.508G>T	ENSP00000417687.1:p.Ala170Ser
NM_001080.3:c.592G>T MANE Select	NP_001071.1:p.Ala198Ser
NM_170740.1:c.592G>T	NP_733936.1:p.Ala198Ser
NM_001368954.1:c.592G>T	NP_001355883.1:p.Ala198Ser