Canonical Allele Identifier: CA9461365

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423072A>G , CM000681.2:g.41423072A>G	GRCh38
NC_000019.9:g.41928977A>G , CM000681.1:g.41928977A>G	GRCh37
NC_000019.8:g.46620817A>G	NCBI36
NG_013004.1:g.30284A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1070A>G MANE Select	NP_000700.1:p.Gln357Arg
ENST00000269980.7:c.1070A>G MANE Select	ENSP00000269980.2:p.Gln357Arg
NM_000709.3:c.1070A>G	NP_000700.1:p.Gln357Arg
NM_001164783.1:c.1067A>G	NP_001158255.1:p.Gln356Arg
NM_001164783.2:c.1067A>G	NP_001158255.1:p.Gln356Arg
ENST00000269980.6:c.1070A>G	ENSP00000269980.2:p.Gln357Arg
ENST00000457836.6:c.1079A>G	ENSP00000416000.2:p.Gln360Arg
ENST00000540732.3:c.1172A>G	ENSP00000443246.1:p.Gln391Arg
ENST00000542943.5:c.983A>G	ENSP00000440345.1:p.Gln328Arg
ENST00000595085.5:c.922+375A>G	ENSP00000471150.2:n.922+375A>G