Canonical Allele Identifier: CA2336460089

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424589T= , CM000681.2:g.41424589T=	GRCh38
NC_000019.9:g.41930494T= , CM000681.1:g.41930494T=	GRCh37
NC_000019.8:g.46622334T=	NCBI36
NG_013004.1:g.31801T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1319T= MANE Select	ENSP00000269980.2:p.Leu440=
ENST00000269980.6:c.1319T=	ENSP00000269980.2:p.Leu440=
ENST00000457836.6:c.1328T=	ENSP00000416000.2:p.Leu443=
ENST00000540732.3:c.1421T=	ENSP00000443246.1:p.Leu474=
ENST00000544905.1:c.149T=
ENST00000595085.5:c.922+1892T=	ENSP00000471150.2:n.922+1892T=
NM_000709.3:c.1319T=	NP_000700.1:p.Leu440=
NM_001164783.1:c.1316T=	NP_001158255.1:p.Leu439=
NM_000709.4:c.1319T= MANE Select	NP_000700.1:p.Leu440=
NM_001164783.2:c.1316T=	NP_001158255.1:p.Leu439=