Canonical Allele Identifier: CA2336460023

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424445A= , CM000681.2:g.41424445A=	GRCh38
NC_000019.9:g.41930350A= , CM000681.1:g.41930350A=	GRCh37
NC_000019.8:g.46622190A=	NCBI36
NG_013004.1:g.31657A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1175A= MANE Select	ENSP00000269980.2:p.Glu392=
ENST00000269980.6:c.1175A=	ENSP00000269980.2:p.Glu392=
ENST00000457836.6:c.1184A=	ENSP00000416000.2:p.Glu395=
ENST00000540732.3:c.1277A=	ENSP00000443246.1:p.Glu426=
ENST00000544905.1:c.62-57A=
ENST00000595085.5:c.922+1748A=	ENSP00000471150.2:n.922+1748A=
NM_000709.3:c.1175A=	NP_000700.1:p.Glu392=
NM_001164783.1:c.1172A=	NP_001158255.1:p.Glu391=
NM_000709.4:c.1175A= MANE Select	NP_000700.1:p.Glu392=
NM_001164783.2:c.1172A=	NP_001158255.1:p.Glu391=