Canonical Allele Identifier: CA2336459205

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422643G= , CM000681.2:g.41422643G=	GRCh38
NC_000019.9:g.41928548G= , CM000681.1:g.41928548G=	GRCh37
NC_000019.8:g.46620388G=	NCBI36
NG_013004.1:g.29855G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.868G= MANE Select	ENSP00000269980.2:p.Gly290=
ENST00000269980.6:c.868G=	ENSP00000269980.2:p.Gly290=
ENST00000457836.6:c.802G=	ENSP00000416000.2:p.Gly268=
ENST00000535632.5:n.497G=
ENST00000540732.3:c.970G=	ENSP00000443246.1:p.Gly324=
ENST00000542943.5:c.781G=	ENSP00000440345.1:p.Gly261=
ENST00000545787.1:n.496G=
ENST00000595085.5:c.868G=	ENSP00000471150.2:p.Gly290=
NM_000709.3:c.868G=	NP_000700.1:p.Gly290=
NM_001164783.1:c.865G=	NP_001158255.1:p.Gly289=
NM_000709.4:c.868G= MANE Select	NP_000700.1:p.Gly290=
NM_001164783.2:c.865G=	NP_001158255.1:p.Gly289=