Canonical Allele Identifier: CA362968748

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495348A>T , CM000668.2:g.24495348A>T	GRCh38
NC_000006.11:g.24495576A>T , CM000668.1:g.24495576A>T	GRCh37
NC_000006.10:g.24603555A>T	NCBI36
NG_008161.1:g.5380A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.352A>T MANE Select	NP_001071.1:p.Lys118Ter
ENST00000357578.8:c.352A>T MANE Select	ENSP00000350191.3:p.Lys118Ter
NM_001368954.1:c.352A>T	NP_001355883.1:p.Lys118Ter
NM_170740.1:c.352A>T	NP_733936.1:p.Lys118Ter
ENST00000348925.2:c.352A>T	ENSP00000314649.3:p.Lys118Ter
ENST00000357578.7:c.352A>T	ENSP00000350191.3:p.Lys118Ter
ENST00000491546.5:c.352A>T	ENSP00000417687.1:p.Lys118Ter
ENST00000672352.1:c.115A>T	ENSP00000500876.1:p.Lys39Ter
ENST00000672557.1:c.113A>T
ENST00000672652.1:c.273A>T