Canonical Allele Identifier: CA2336455339

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414096C= , CM000681.2:g.41414096C=	GRCh38
NC_000019.9:g.41920001C= , CM000681.1:g.41920001C=	GRCh37
NC_000019.8:g.46611841C=	NCBI36
NG_013004.1:g.21308C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.423C= MANE Select	ENSP00000269980.2:p.His141=
ENST00000269980.6:c.423C=	ENSP00000269980.2:p.His141=
ENST00000457836.6:c.357C=	ENSP00000416000.2:p.His119=
ENST00000538423.5:n.549C=
ENST00000540732.3:c.525C=	ENSP00000443246.1:p.His175=
ENST00000541315.1:c.230C=
ENST00000542943.5:c.336C=	ENSP00000440345.1:p.His112=
ENST00000595085.5:c.423C=	ENSP00000471150.2:p.His141=
NM_000709.3:c.423C=	NP_000700.1:p.His141=
NM_001164783.1:c.423C=	NP_001158255.1:p.His141=
NM_000709.4:c.423C= MANE Select	NP_000700.1:p.His141=
NM_001164783.2:c.423C=	NP_001158255.1:p.His141=