Canonical Allele Identifier: CA3656659

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs747502979
• ExAC: 6:24503638 G / T
• gnomAD v2: 6-24503638-G-T
• MyVariant Identifiers: chr6:g.24503638G>T (hg19) ; chr6:g.24503410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503410G>T , CM000668.2:g.24503410G>T	GRCh38
NC_000006.11:g.24503638G>T , CM000668.1:g.24503638G>T	GRCh37
NC_000006.10:g.24611617G>T	NCBI36
NG_008161.1:g.13442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.586G>T MANE Select	ENSP00000350191.3:p.Gly196Cys
ENST00000672352.1:c.349G>T	ENSP00000500876.1:p.Gly117Cys
ENST00000672557.1:c.504G>T
ENST00000672652.1:c.507G>T
ENST00000675422.1:n.1346G>T
ENST00000348925.2:c.586G>T	ENSP00000314649.3:p.Gly196Cys
ENST00000357578.7:c.586G>T	ENSP00000350191.3:p.Gly196Cys
ENST00000491546.5:c.502G>T	ENSP00000417687.1:p.Gly168Cys
NM_001080.3:c.586G>T MANE Select	NP_001071.1:p.Gly196Cys
NM_170740.1:c.586G>T	NP_733936.1:p.Gly196Cys
NM_001368954.1:c.586G>T	NP_001355883.1:p.Gly196Cys