Canonical Allele Identifier: CA362974133

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24520446G>A , CM000668.2:g.24520446G>A	GRCh38
NC_000006.11:g.24520674G>A , CM000668.1:g.24520674G>A	GRCh37
NC_000006.10:g.24628653G>A	NCBI36
NG_008161.1:g.30478G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.916G>A MANE Select	NP_001071.1:p.Glu306Lys
ENST00000357578.8:c.916G>A MANE Select	ENSP00000350191.3:p.Glu306Lys
NM_001368954.1:c.772G>A	NP_001355883.1:p.Glu258Lys
NM_170740.1:c.955G>A	NP_733936.1:p.Glu319Lys
ENST00000348925.2:c.955G>A	ENSP00000314649.3:p.Glu319Lys
ENST00000357578.7:c.916G>A	ENSP00000350191.3:p.Glu306Lys
ENST00000491546.5:c.832G>A	ENSP00000417687.1:p.Glu278Lys
ENST00000672352.1:c.535G>A	ENSP00000500876.1:p.Glu179Lys
ENST00000672557.1:c.834G>A
ENST00000672619.1:n.276G>A
ENST00000672652.1:c.879G>A