Canonical Allele Identifier: CA2336459029

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422258T= , CM000681.2:g.41422258T=	GRCh38
NC_000019.9:g.41928163T= , CM000681.1:g.41928163T=	GRCh37
NC_000019.8:g.46620003T=	NCBI36
NG_013004.1:g.29470T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.741T= MANE Select	ENSP00000269980.2:p.His247=
ENST00000269980.6:c.741T=	ENSP00000269980.2:p.His247=
ENST00000457836.6:c.675T=	ENSP00000416000.2:p.His225=
ENST00000535632.5:n.370T=
ENST00000540732.3:c.843T=	ENSP00000443246.1:p.His281=
ENST00000542943.5:c.654T=	ENSP00000440345.1:p.His218=
ENST00000545787.1:n.369T=
ENST00000595085.5:c.741T=	ENSP00000471150.2:p.His247=
NM_000709.3:c.741T=	NP_000700.1:p.His247=
NM_001164783.1:c.741T=	NP_001158255.1:p.His247=
NM_000709.4:c.741T= MANE Select	NP_000700.1:p.His247=
NM_001164783.2:c.741T=	NP_001158255.1:p.His247=