Canonical Allele Identifier: CA362971562

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515194G>T , CM000668.2:g.24515194G>T	GRCh38
NC_000006.11:g.24515422G>T , CM000668.1:g.24515422G>T	GRCh37
NC_000006.10:g.24623401G>T	NCBI36
NG_008161.1:g.25226G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.754G>T MANE Select	NP_001071.1:p.Gly252Cys
ENST00000357578.8:c.754G>T MANE Select	ENSP00000350191.3:p.Gly252Cys
NM_001368954.1:c.727-5207G>T	NP_001355883.1:n.727-5207G>T
NM_170740.1:c.793G>T	NP_733936.1:p.Gly265Cys
ENST00000348925.2:c.793G>T	ENSP00000314649.3:p.Gly265Cys
ENST00000357578.7:c.754G>T	ENSP00000350191.3:p.Gly252Cys
ENST00000491546.5:c.670G>T	ENSP00000417687.1:p.Gly224Cys
ENST00000672352.1:c.490-5207G>T	ENSP00000500876.1:n.490-5207G>T
ENST00000672557.1:c.672G>T
ENST00000672619.1:n.114G>T
ENST00000672652.1:c.717G>T
ENST00000675422.1:n.1514G>T