Canonical Allele Identifier: CA2336453775

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410678C= , CM000681.2:g.41410678C=	GRCh38
NC_000019.9:g.41916583C= , CM000681.1:g.41916583C=	GRCh37
NC_000019.8:g.46608423C=	NCBI36
NG_013004.1:g.17890C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.150C= MANE Select	ENSP00000269980.2:p.Asp50=
ENST00000269980.6:c.150C=	ENSP00000269980.2:p.Asp50=
ENST00000457836.6:c.84C=	ENSP00000416000.2:p.Asp28=
ENST00000538423.5:n.170C=
ENST00000540732.3:c.252C=	ENSP00000443246.1:p.Asp84=
ENST00000542943.5:c.150C=	ENSP00000440345.1:p.Asp50=
ENST00000595085.5:c.150C=	ENSP00000471150.2:p.Asp50=
ENST00000604424.1:n.392C=
NM_000709.3:c.150C=	NP_000700.1:p.Asp50=
NM_001164783.1:c.150C=	NP_001158255.1:p.Asp50=
NM_000709.4:c.150C= MANE Select	NP_000700.1:p.Asp50=
NM_001164783.2:c.150C=	NP_001158255.1:p.Asp50=