Canonical Allele Identifier: CA2336459237

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422706A= , CM000681.2:g.41422706A=	GRCh38
NC_000019.9:g.41928611A= , CM000681.1:g.41928611A=	GRCh37
NC_000019.8:g.46620451A=	NCBI36
NG_013004.1:g.29918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.931A= MANE Select	ENSP00000269980.2:p.Lys311=
ENST00000269980.6:c.931A=	ENSP00000269980.2:p.Lys311=
ENST00000457836.6:c.865A=	ENSP00000416000.2:p.Lys289=
ENST00000535632.5:n.560A=
ENST00000540732.3:c.1033A=	ENSP00000443246.1:p.Lys345=
ENST00000542943.5:c.844A=	ENSP00000440345.1:p.Lys282=
ENST00000545787.1:n.559A=
ENST00000595085.5:c.922+9A=	ENSP00000471150.2:n.922+9A=
NM_000709.3:c.931A=	NP_000700.1:p.Lys311=
NM_001164783.1:c.928A=	NP_001158255.1:p.Lys310=
NM_000709.4:c.931A= MANE Select	NP_000700.1:p.Lys311=
NM_001164783.2:c.928A=	NP_001158255.1:p.Lys310=