Canonical Allele Identifier: CA2336460057

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424525C= , CM000681.2:g.41424525C=	GRCh38
NC_000019.9:g.41930430C= , CM000681.1:g.41930430C=	GRCh37
NC_000019.8:g.46622270C=	NCBI36
NG_013004.1:g.31737C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1255C= MANE Select	ENSP00000269980.2:p.Gln419=
ENST00000269980.6:c.1255C=	ENSP00000269980.2:p.Gln419=
ENST00000457836.6:c.1264C=	ENSP00000416000.2:p.Gln422=
ENST00000540732.3:c.1357C=	ENSP00000443246.1:p.Gln453=
ENST00000544905.1:c.85C=
ENST00000595085.5:c.922+1828C=	ENSP00000471150.2:n.922+1828C=
NM_000709.3:c.1255C=	NP_000700.1:p.Gln419=
NM_001164783.1:c.1252C=	NP_001158255.1:p.Gln418=
NM_000709.4:c.1255C= MANE Select	NP_000700.1:p.Gln419=
NM_001164783.2:c.1252C=	NP_001158255.1:p.Gln418=