Canonical Allele Identifier: CA2336460025

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424452T= , CM000681.2:g.41424452T=	GRCh38
NC_000019.9:g.41930357T= , CM000681.1:g.41930357T=	GRCh37
NC_000019.8:g.46622197T=	NCBI36
NG_013004.1:g.31664T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1182T= MANE Select	ENSP00000269980.2:p.Phe394=
ENST00000269980.6:c.1182T=	ENSP00000269980.2:p.Phe394=
ENST00000457836.6:c.1191T=	ENSP00000416000.2:p.Phe397=
ENST00000540732.3:c.1284T=	ENSP00000443246.1:p.Phe428=
ENST00000544905.1:c.62-50T=
ENST00000595085.5:c.922+1755T=	ENSP00000471150.2:n.922+1755T=
NM_000709.3:c.1182T=	NP_000700.1:p.Phe394=
NM_001164783.1:c.1179T=	NP_001158255.1:p.Phe393=
NM_000709.4:c.1182T= MANE Select	NP_000700.1:p.Phe394=
NM_001164783.2:c.1179T=	NP_001158255.1:p.Phe393=