Canonical Allele Identifier: CA2336460024

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424446G= , CM000681.2:g.41424446G=	GRCh38
NC_000019.9:g.41930351G= , CM000681.1:g.41930351G=	GRCh37
NC_000019.8:g.46622191G=	NCBI36
NG_013004.1:g.31658G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1176G= MANE Select	ENSP00000269980.2:p.Glu392=
ENST00000269980.6:c.1176G=	ENSP00000269980.2:p.Glu392=
ENST00000457836.6:c.1185G=	ENSP00000416000.2:p.Glu395=
ENST00000540732.3:c.1278G=	ENSP00000443246.1:p.Glu426=
ENST00000544905.1:c.62-56G=
ENST00000595085.5:c.922+1749G=	ENSP00000471150.2:n.922+1749G=
NM_000709.3:c.1176G=	NP_000700.1:p.Glu392=
NM_001164783.1:c.1173G=	NP_001158255.1:p.Glu391=
NM_000709.4:c.1176G= MANE Select	NP_000700.1:p.Glu392=
NM_001164783.2:c.1173G=	NP_001158255.1:p.Glu391=