Canonical Allele Identifier: CA2336460092

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424597T= , CM000681.2:g.41424597T=	GRCh38
NC_000019.9:g.41930502T= , CM000681.1:g.41930502T=	GRCh37
NC_000019.8:g.46622342T=	NCBI36
NG_013004.1:g.31809T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1327T= MANE Select	ENSP00000269980.2:p.Phe443=
ENST00000269980.6:c.1327T=	ENSP00000269980.2:p.Phe443=
ENST00000457836.6:c.1336T=	ENSP00000416000.2:p.Phe446=
ENST00000540732.3:c.1429T=	ENSP00000443246.1:p.Phe477=
ENST00000544905.1:c.157T=
ENST00000595085.5:c.922+1900T=	ENSP00000471150.2:n.922+1900T=
NM_000709.3:c.1327T=	NP_000700.1:p.Phe443=
NM_001164783.1:c.1324T=	NP_001158255.1:p.Phe442=
NM_000709.4:c.1327T= MANE Select	NP_000700.1:p.Phe443=
NM_001164783.2:c.1324T=	NP_001158255.1:p.Phe442=