Canonical Allele Identifier: CA362978531

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528314G>C (hg19) ; chr6:g.24528086G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528086G>C , CM000668.2:g.24528086G>C	GRCh38
NC_000006.11:g.24528314G>C , CM000668.1:g.24528314G>C	GRCh37
NC_000006.10:g.24636293G>C	NCBI36
NG_008161.1:g.38118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1263G>C MANE Select	ENSP00000350191.3:p.Glu421Asp
ENST00000479394.2:n.378G>C
ENST00000672352.1:c.882G>C	ENSP00000500876.1:p.Glu294Asp
ENST00000672652.1:c.1226G>C
ENST00000348925.2:c.1302G>C	ENSP00000314649.3:p.Glu434Asp
ENST00000357578.7:c.1263G>C	ENSP00000350191.3:p.Glu421Asp
ENST00000479394.1:n.378G>C
ENST00000491546.5:c.1179G>C	ENSP00000417687.1:p.Glu393Asp
NM_001080.3:c.1263G>C MANE Select	NP_001071.1:p.Glu421Asp
NM_170740.1:c.1302G>C	NP_733936.1:p.Glu434Asp
NM_001368954.1:c.1119G>C	NP_001355883.1:p.Glu373Asp