Canonical Allele Identifier: CA448782572

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503352-A-C
• MyVariant Identifiers: chr6:g.24503580A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503352A>C , CM000668.2:g.24503352A>C	GRCh38
NC_000006.11:g.24503580A>C , CM000668.1:g.24503580A>C	GRCh37
NC_000006.10:g.24611559A>C	NCBI36
NG_008161.1:g.13384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.528A>C MANE Select	ENSP00000350191.3:p.Gly176=
ENST00000672352.1:c.291A>C	ENSP00000500876.1:p.Gly97=
ENST00000672557.1:c.446A>C
ENST00000672652.1:c.449A>C
ENST00000675422.1:n.1288A>C
ENST00000348925.2:c.528A>C	ENSP00000314649.3:p.Gly176=
ENST00000357578.7:c.528A>C	ENSP00000350191.3:p.Gly176=
ENST00000491546.5:c.444A>C	ENSP00000417687.1:p.Gly148=
NM_001080.3:c.528A>C MANE Select	NP_001071.1:p.Gly176=
NM_170740.1:c.528A>C	NP_733936.1:p.Gly176=
NM_001368954.1:c.528A>C	NP_001355883.1:p.Gly176=