Canonical Allele Identifier: CA2336460072

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424555C= , CM000681.2:g.41424555C=	GRCh38
NC_000019.9:g.41930460C= , CM000681.1:g.41930460C=	GRCh37
NC_000019.8:g.46622300C=	NCBI36
NG_013004.1:g.31767C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1285C= MANE Select	ENSP00000269980.2:p.Arg429=
ENST00000269980.6:c.1285C=	ENSP00000269980.2:p.Arg429=
ENST00000457836.6:c.1294C=	ENSP00000416000.2:p.Arg432=
ENST00000540732.3:c.1387C=	ENSP00000443246.1:p.Arg463=
ENST00000544905.1:c.115C=
ENST00000595085.5:c.922+1858C=	ENSP00000471150.2:n.922+1858C=
NM_000709.3:c.1285C=	NP_000700.1:p.Arg429=
NM_001164783.1:c.1282C=	NP_001158255.1:p.Arg428=
NM_000709.4:c.1285C= MANE Select	NP_000700.1:p.Arg429=
NM_001164783.2:c.1282C=	NP_001158255.1:p.Arg428=