Canonical Allele Identifier: CA2336459244

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422719G= , CM000681.2:g.41422719G=	GRCh38
NC_000019.9:g.41928624G= , CM000681.1:g.41928624G=	GRCh37
NC_000019.8:g.46620464G=	NCBI36
NG_013004.1:g.29931G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.944G= MANE Select	ENSP00000269980.2:p.Arg315=
ENST00000269980.6:c.944G=	ENSP00000269980.2:p.Arg315=
ENST00000457836.6:c.878G=	ENSP00000416000.2:p.Arg293=
ENST00000535632.5:n.573G=
ENST00000540732.3:c.1046G=	ENSP00000443246.1:p.Arg349=
ENST00000542943.5:c.857G=	ENSP00000440345.1:p.Arg286=
ENST00000545787.1:n.572G=
ENST00000595085.5:c.922+22G=	ENSP00000471150.2:n.922+22G=
NM_000709.3:c.944G=	NP_000700.1:p.Arg315=
NM_001164783.1:c.941G=	NP_001158255.1:p.Arg314=
NM_000709.4:c.944G= MANE Select	NP_000700.1:p.Arg315=
NM_001164783.2:c.941G=	NP_001158255.1:p.Arg314=