Canonical Allele Identifier: CA2336455371

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414149G= , CM000681.2:g.41414149G=	GRCh38
NC_000019.9:g.41920054G= , CM000681.1:g.41920054G=	GRCh37
NC_000019.8:g.46611894G=	NCBI36
NG_013004.1:g.21361G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.476G= MANE Select	NP_000700.1:p.Arg159=
ENST00000269980.7:c.476G= MANE Select	ENSP00000269980.2:p.Arg159=
NM_000709.3:c.476G=	NP_000700.1:p.Arg159=
NM_001164783.1:c.476G=	NP_001158255.1:p.Arg159=
NM_001164783.2:c.476G=	NP_001158255.1:p.Arg159=
ENST00000269980.6:c.476G=	ENSP00000269980.2:p.Arg159=
ENST00000457836.6:c.410G=	ENSP00000416000.2:p.Arg137=
ENST00000538423.5:n.602G=
ENST00000540732.3:c.578G=	ENSP00000443246.1:p.Arg193=
ENST00000541315.1:c.283G=
ENST00000542943.5:c.389G=	ENSP00000440345.1:p.Arg130=
ENST00000595085.5:c.476G=	ENSP00000471150.2:p.Arg159=