Canonical Allele Identifier: CA2336459011

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422229G= , CM000681.2:g.41422229G=	GRCh38
NC_000019.9:g.41928134G= , CM000681.1:g.41928134G=	GRCh37
NC_000019.8:g.46619974G=	NCBI36
NG_013004.1:g.29441G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.712G= MANE Select	ENSP00000269980.2:p.Glu238=
ENST00000269980.6:c.712G=	ENSP00000269980.2:p.Glu238=
ENST00000457836.6:c.646G=	ENSP00000416000.2:p.Glu216=
ENST00000535632.5:n.341G=
ENST00000540732.3:c.814G=	ENSP00000443246.1:p.Glu272=
ENST00000541315.1:c.612G=
ENST00000542943.5:c.625G=	ENSP00000440345.1:p.Glu209=
ENST00000545787.1:n.340G=
ENST00000595085.5:c.712G=	ENSP00000471150.2:p.Glu238=
NM_000709.3:c.712G=	NP_000700.1:p.Glu238=
NM_001164783.1:c.712G=	NP_001158255.1:p.Glu238=
NM_000709.4:c.712G= MANE Select	NP_000700.1:p.Glu238=
NM_001164783.2:c.712G=	NP_001158255.1:p.Glu238=