Canonical Allele Identifier: CA2336459263

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422754G= , CM000681.2:g.41422754G=	GRCh38
NC_000019.9:g.41928659G= , CM000681.1:g.41928659G=	GRCh37
NC_000019.8:g.46620499G=	NCBI36
NG_013004.1:g.29966G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.979G= MANE Select	NP_000700.1:p.Glu327=
ENST00000269980.7:c.979G= MANE Select	ENSP00000269980.2:p.Glu327=
NM_000709.3:c.979G=	NP_000700.1:p.Glu327=
NM_001164783.1:c.976G=	NP_001158255.1:p.Glu326=
NM_001164783.2:c.976G=	NP_001158255.1:p.Glu326=
ENST00000269980.6:c.979G=	ENSP00000269980.2:p.Glu327=
ENST00000457836.6:c.913G=	ENSP00000416000.2:p.Glu305=
ENST00000535632.5:n.608G=
ENST00000540732.3:c.1081G=	ENSP00000443246.1:p.Glu361=
ENST00000542943.5:c.892G=	ENSP00000440345.1:p.Glu298=
ENST00000595085.5:c.922+57G=	ENSP00000471150.2:n.922+57G=