Canonical Allele Identifier: CA3656681

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504896C>T , CM000668.2:g.24504896C>T	GRCh38
NC_000006.11:g.24505124C>T , CM000668.1:g.24505124C>T	GRCh37
NC_000006.10:g.24613103C>T	NCBI36
NG_008161.1:g.14928C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.637C>T MANE Select	NP_001071.1:p.Arg213Trp
ENST00000357578.8:c.637C>T MANE Select	ENSP00000350191.3:p.Arg213Trp
NM_001368954.1:c.637C>T	NP_001355883.1:p.Arg213Trp
NM_170740.1:c.637C>T	NP_733936.1:p.Arg213Trp
ENST00000348925.2:c.637C>T	ENSP00000314649.3:p.Arg213Trp
ENST00000357578.7:c.637C>T	ENSP00000350191.3:p.Arg213Trp
ENST00000491546.5:c.553C>T	ENSP00000417687.1:p.Arg185Trp
ENST00000672352.1:c.400C>T	ENSP00000500876.1:p.Arg134Trp
ENST00000672557.1:c.555C>T
ENST00000672652.1:c.558C>T
ENST00000675422.1:n.1397C>T