Canonical Allele Identifier: CA2336453831

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410807G= , CM000681.2:g.41410807G=	GRCh38
NC_000019.9:g.41916712G= , CM000681.1:g.41916712G=	GRCh37
NC_000019.8:g.46608552G=	NCBI36
NG_013004.1:g.18019G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.279G= MANE Select	ENSP00000269980.2:p.Glu93=
ENST00000269980.6:c.279G=	ENSP00000269980.2:p.Glu93=
ENST00000457836.6:c.213G=	ENSP00000416000.2:p.Glu71=
ENST00000538423.5:n.299G=
ENST00000540732.3:c.381G=	ENSP00000443246.1:p.Glu127=
ENST00000541315.1:c.86G=
ENST00000542943.5:c.279G=	ENSP00000440345.1:p.Glu93=
ENST00000595085.5:c.279G=	ENSP00000471150.2:p.Glu93=
ENST00000604424.1:n.521G=
NM_000709.3:c.279G=	NP_000700.1:p.Glu93=
NM_001164783.1:c.279G=	NP_001158255.1:p.Glu93=
NM_000709.4:c.279G= MANE Select	NP_000700.1:p.Glu93=
NM_001164783.2:c.279G=	NP_001158255.1:p.Glu93=