Canonical Allele Identifier: CA362967602

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533612C>G , CM000668.2:g.24533612C>G	GRCh38
NC_000006.11:g.24533840C>G , CM000668.1:g.24533840C>G	GRCh37
NC_000006.10:g.24641819C>G	NCBI36
NG_008161.1:g.43644C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1508C>G MANE Select	NP_001071.1:p.Pro503Arg
ENST00000357578.8:c.1508C>G MANE Select	ENSP00000350191.3:p.Pro503Arg
NM_001368954.1:c.1364C>G	NP_001355883.1:p.Pro455Arg
NM_170740.1:c.1547C>G	NP_733936.1:p.Pro516Arg
ENST00000348925.2:c.1547C>G	ENSP00000314649.3:p.Pro516Arg
ENST00000357578.7:c.1508C>G	ENSP00000350191.3:p.Pro503Arg
ENST00000479394.1:n.623C>G
ENST00000479394.2:n.623C>G
ENST00000491546.5:c.1424C>G	ENSP00000417687.1:p.Pro475Arg
ENST00000492697.1:n.274C>G
ENST00000672352.1:c.1127C>G	ENSP00000500876.1:p.Pro376Arg
ENST00000672652.1:c.1471C>G