Canonical Allele Identifier: CA448787484

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528269T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528041T>C , CM000668.2:g.24528041T>C	GRCh38
NC_000006.11:g.24528269T>C , CM000668.1:g.24528269T>C	GRCh37
NC_000006.10:g.24636248T>C	NCBI36
NG_008161.1:g.38073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1218T>C MANE Select	ENSP00000350191.3:p.Val406=
ENST00000479394.2:n.333T>C
ENST00000672352.1:c.837T>C	ENSP00000500876.1:p.Val279=
ENST00000672652.1:c.1181T>C
ENST00000348925.2:c.1257T>C	ENSP00000314649.3:p.Val419=
ENST00000357578.7:c.1218T>C	ENSP00000350191.3:p.Val406=
ENST00000479394.1:n.333T>C
ENST00000491546.5:c.1134T>C	ENSP00000417687.1:p.Val378=
NM_001080.3:c.1218T>C MANE Select	NP_001071.1:p.Val406=
NM_170740.1:c.1257T>C	NP_733936.1:p.Val419=
NM_001368954.1:c.1074T>C	NP_001355883.1:p.Val358=