Canonical Allele Identifier: CA2336453952

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411005G= , CM000681.2:g.41411005G=	GRCh38
NC_000019.9:g.41916910G= , CM000681.1:g.41916910G=	GRCh37
NC_000019.8:g.46608750G=	NCBI36
NG_013004.1:g.18217G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.371G= MANE Select	ENSP00000269980.2:p.Arg124=
ENST00000269980.6:c.371G=	ENSP00000269980.2:p.Arg124=
ENST00000457836.6:c.305G=	ENSP00000416000.2:p.Arg102=
ENST00000538423.5:n.497G=
ENST00000540732.3:c.473G=	ENSP00000443246.1:p.Arg158=
ENST00000541315.1:c.178G=
ENST00000542943.5:c.288+189G=	ENSP00000440345.1:n.288+189G=
ENST00000595085.5:c.371G=	ENSP00000471150.2:p.Arg124=
NM_000709.3:c.371G=	NP_000700.1:p.Arg124=
NM_001164783.1:c.371G=	NP_001158255.1:p.Arg124=
NM_000709.4:c.371G= MANE Select	NP_000700.1:p.Arg124=
NM_001164783.2:c.371G=	NP_001158255.1:p.Arg124=