Canonical Allele Identifier: CA362978365

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528297G>C (hg19) ; chr6:g.24528069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528069G>C , CM000668.2:g.24528069G>C	GRCh38
NC_000006.11:g.24528297G>C , CM000668.1:g.24528297G>C	GRCh37
NC_000006.10:g.24636276G>C	NCBI36
NG_008161.1:g.38101G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357578.8:c.1246G>C MANE Select	ENSP00000350191.3:p.Gly416Arg
ENST00000479394.2:n.361G>C
ENST00000672352.1:c.865G>C	ENSP00000500876.1:p.Gly289Arg
ENST00000672652.1:c.1209G>C
ENST00000348925.2:c.1285G>C	ENSP00000314649.3:p.Gly429Arg
ENST00000357578.7:c.1246G>C	ENSP00000350191.3:p.Gly416Arg
ENST00000479394.1:n.361G>C
ENST00000491546.5:c.1162G>C	ENSP00000417687.1:p.Gly388Arg
NM_001080.3:c.1246G>C MANE Select	NP_001071.1:p.Gly416Arg
NM_170740.1:c.1285G>C	NP_733936.1:p.Gly429Arg
NM_001368954.1:c.1102G>C	NP_001355883.1:p.Gly368Arg