Canonical Allele Identifier: CA362967720

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533644C>T , CM000668.2:g.24533644C>T	GRCh38
NC_000006.11:g.24533872C>T , CM000668.1:g.24533872C>T	GRCh37
NC_000006.10:g.24641851C>T	NCBI36
NG_008161.1:g.43676C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1540C>T MANE Select	NP_001071.1:p.Arg514Ter
ENST00000357578.8:c.1540C>T MANE Select	ENSP00000350191.3:p.Arg514Ter
NM_001368954.1:c.1396C>T	NP_001355883.1:p.Arg466Ter
NM_170740.1:c.1579C>T	NP_733936.1:p.Arg527Ter
ENST00000348925.2:c.1579C>T	ENSP00000314649.3:p.Arg527Ter
ENST00000357578.7:c.1540C>T	ENSP00000350191.3:p.Arg514Ter
ENST00000479394.1:n.655C>T
ENST00000479394.2:n.655C>T
ENST00000491546.5:c.1456C>T	ENSP00000417687.1:p.Arg486Ter
ENST00000492697.1:n.306C>T
ENST00000672352.1:c.1159C>T	ENSP00000500876.1:p.Arg387Ter
ENST00000672652.1:c.1503C>T