Canonical Allele Identifier: CA362967499

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533563G>T , CM000668.2:g.24533563G>T	GRCh38
NC_000006.11:g.24533791G>T , CM000668.1:g.24533791G>T	GRCh37
NC_000006.10:g.24641770G>T	NCBI36
NG_008161.1:g.43595G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1459G>T MANE Select	NP_001071.1:p.Val487Leu
ENST00000357578.8:c.1459G>T MANE Select	ENSP00000350191.3:p.Val487Leu
NM_001368954.1:c.1315G>T	NP_001355883.1:p.Val439Leu
NM_170740.1:c.1498G>T	NP_733936.1:p.Val500Leu
ENST00000348925.2:c.1498G>T	ENSP00000314649.3:p.Val500Leu
ENST00000357578.7:c.1459G>T	ENSP00000350191.3:p.Val487Leu
ENST00000479394.1:n.574G>T
ENST00000479394.2:n.574G>T
ENST00000491546.5:c.1375G>T	ENSP00000417687.1:p.Val459Leu
ENST00000492697.1:n.225G>T
ENST00000672352.1:c.1078G>T	ENSP00000500876.1:p.Val360Leu
ENST00000672652.1:c.1422G>T