Canonical Allele Identifier: CA3656747

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515221C>T , CM000668.2:g.24515221C>T	GRCh38
NC_000006.11:g.24515449C>T , CM000668.1:g.24515449C>T	GRCh37
NC_000006.10:g.24623428C>T	NCBI36
NG_008161.1:g.25253C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.781C>T MANE Select	NP_001071.1:p.Arg261Ter
ENST00000357578.8:c.781C>T MANE Select	ENSP00000350191.3:p.Arg261Ter
NM_001368954.1:c.727-5180C>T	NP_001355883.1:n.727-5180C>T
NM_170740.1:c.820C>T	NP_733936.1:p.Arg274Ter
ENST00000348925.2:c.820C>T	ENSP00000314649.3:p.Arg274Ter
ENST00000357578.7:c.781C>T	ENSP00000350191.3:p.Arg261Ter
ENST00000491546.5:c.697C>T	ENSP00000417687.1:p.Arg233Ter
ENST00000672352.1:c.490-5180C>T	ENSP00000500876.1:n.490-5180C>T
ENST00000672557.1:c.699C>T
ENST00000672619.1:n.141C>T
ENST00000672652.1:c.744C>T
ENST00000675422.1:n.1541C>T