Canonical Allele Identifier: CA9461422

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424556G>A , CM000681.2:g.41424556G>A	GRCh38
NC_000019.9:g.41930461G>A , CM000681.1:g.41930461G>A	GRCh37
NC_000019.8:g.46622301G>A	NCBI36
NG_013004.1:g.31768G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1286G>A MANE Select	NP_000700.1:p.Arg429His
ENST00000269980.7:c.1286G>A MANE Select	ENSP00000269980.2:p.Arg429His
NM_000709.3:c.1286G>A	NP_000700.1:p.Arg429His
NM_001164783.1:c.1283G>A	NP_001158255.1:p.Arg428His
NM_001164783.2:c.1283G>A	NP_001158255.1:p.Arg428His
ENST00000269980.6:c.1286G>A	ENSP00000269980.2:p.Arg429His
ENST00000457836.6:c.1295G>A	ENSP00000416000.2:p.Arg432His
ENST00000540732.3:c.1388G>A	ENSP00000443246.1:p.Arg463His
ENST00000544905.1:c.116G>A
ENST00000595085.5:c.922+1859G>A	ENSP00000471150.2:n.922+1859G>A