Canonical Allele Identifier: CA3656765

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515299A>G , CM000668.2:g.24515299A>G	GRCh38
NC_000006.11:g.24515527A>G , CM000668.1:g.24515527A>G	GRCh37
NC_000006.10:g.24623506A>G	NCBI36
NG_008161.1:g.25331A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.859A>G MANE Select	NP_001071.1:p.Thr287Ala
ENST00000357578.8:c.859A>G MANE Select	ENSP00000350191.3:p.Thr287Ala
NM_001368954.1:c.727-5102A>G	NP_001355883.1:n.727-5102A>G
NM_170740.1:c.898A>G	NP_733936.1:p.Thr300Ala
ENST00000348925.2:c.898A>G	ENSP00000314649.3:p.Thr300Ala
ENST00000357578.7:c.859A>G	ENSP00000350191.3:p.Thr287Ala
ENST00000491546.5:c.775A>G	ENSP00000417687.1:p.Thr259Ala
ENST00000672352.1:c.490-5102A>G	ENSP00000500876.1:n.490-5102A>G
ENST00000672557.1:c.777A>G
ENST00000672619.1:n.219A>G
ENST00000672652.1:c.822A>G
ENST00000675422.1:n.1619A>G