Canonical Allele Identifier: CA362967891

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533680G>T , CM000668.2:g.24533680G>T	GRCh38
NC_000006.11:g.24533908G>T , CM000668.1:g.24533908G>T	GRCh37
NC_000006.10:g.24641887G>T	NCBI36
NG_008161.1:g.43712G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1576G>T MANE Select	NP_001071.1:p.Glu526Ter
ENST00000357578.8:c.1576G>T MANE Select	ENSP00000350191.3:p.Glu526Ter
NM_001368954.1:c.1432G>T	NP_001355883.1:p.Glu478Ter
NM_170740.1:c.1615G>T	NP_733936.1:p.Glu539Ter
ENST00000348925.2:c.1615G>T	ENSP00000314649.3:p.Glu539Ter
ENST00000357578.7:c.1576G>T	ENSP00000350191.3:p.Glu526Ter
ENST00000479394.1:n.691G>T
ENST00000479394.2:n.691G>T
ENST00000491546.5:c.1492G>T	ENSP00000417687.1:p.Glu498Ter
ENST00000492697.1:n.342G>T
ENST00000672352.1:c.1195G>T	ENSP00000500876.1:p.Glu399Ter
ENST00000672652.1:c.1539G>T