Canonical Allele Identifier: CA2336459020

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422246G= , CM000681.2:g.41422246G=	GRCh38
NC_000019.9:g.41928151G= , CM000681.1:g.41928151G=	GRCh37
NC_000019.8:g.46619991G=	NCBI36
NG_013004.1:g.29458G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.729G= MANE Select	ENSP00000269980.2:p.Glu243=
ENST00000269980.6:c.729G=	ENSP00000269980.2:p.Glu243=
ENST00000457836.6:c.663G=	ENSP00000416000.2:p.Glu221=
ENST00000535632.5:n.358G=
ENST00000540732.3:c.831G=	ENSP00000443246.1:p.Glu277=
ENST00000541315.1:c.629G=
ENST00000542943.5:c.642G=	ENSP00000440345.1:p.Glu214=
ENST00000545787.1:n.357G=
ENST00000595085.5:c.729G=	ENSP00000471150.2:p.Glu243=
NM_000709.3:c.729G=	NP_000700.1:p.Glu243=
NM_001164783.1:c.729G=	NP_001158255.1:p.Glu243=
NM_000709.4:c.729G= MANE Select	NP_000700.1:p.Glu243=
NM_001164783.2:c.729G=	NP_001158255.1:p.Glu243=