Canonical Allele Identifier: CA362971832

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515240T>G , CM000668.2:g.24515240T>G	GRCh38
NC_000006.11:g.24515468T>G , CM000668.1:g.24515468T>G	GRCh37
NC_000006.10:g.24623447T>G	NCBI36
NG_008161.1:g.25272T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.800T>G MANE Select	NP_001071.1:p.Val267Gly
ENST00000357578.8:c.800T>G MANE Select	ENSP00000350191.3:p.Val267Gly
NM_001368954.1:c.727-5161T>G	NP_001355883.1:n.727-5161T>G
NM_170740.1:c.839T>G	NP_733936.1:p.Val280Gly
ENST00000348925.2:c.839T>G	ENSP00000314649.3:p.Val280Gly
ENST00000357578.7:c.800T>G	ENSP00000350191.3:p.Val267Gly
ENST00000491546.5:c.716T>G	ENSP00000417687.1:p.Val239Gly
ENST00000672352.1:c.490-5161T>G	ENSP00000500876.1:n.490-5161T>G
ENST00000672557.1:c.718T>G
ENST00000672619.1:n.160T>G
ENST00000672652.1:c.763T>G
ENST00000675422.1:n.1560T>G