Canonical Allele Identifier: CA362967754

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533651G>A , CM000668.2:g.24533651G>A	GRCh38
NC_000006.11:g.24533879G>A , CM000668.1:g.24533879G>A	GRCh37
NC_000006.10:g.24641858G>A	NCBI36
NG_008161.1:g.43683G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1547G>A MANE Select	NP_001071.1:p.Gly516Glu
ENST00000357578.8:c.1547G>A MANE Select	ENSP00000350191.3:p.Gly516Glu
NM_001368954.1:c.1403G>A	NP_001355883.1:p.Gly468Glu
NM_170740.1:c.1586G>A	NP_733936.1:p.Gly529Glu
ENST00000348925.2:c.1586G>A	ENSP00000314649.3:p.Gly529Glu
ENST00000357578.7:c.1547G>A	ENSP00000350191.3:p.Gly516Glu
ENST00000479394.1:n.662G>A
ENST00000479394.2:n.662G>A
ENST00000491546.5:c.1463G>A	ENSP00000417687.1:p.Gly488Glu
ENST00000492697.1:n.313G>A
ENST00000672352.1:c.1166G>A	ENSP00000500876.1:p.Gly389Glu
ENST00000672652.1:c.1510G>A