Canonical Allele Identifier: CA2336460032

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424468A= , CM000681.2:g.41424468A=	GRCh38
NC_000019.9:g.41930373A= , CM000681.1:g.41930373A=	GRCh37
NC_000019.8:g.46622213A=	NCBI36
NG_013004.1:g.31680A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1198A= MANE Select	ENSP00000269980.2:p.Lys400=
ENST00000269980.6:c.1198A=	ENSP00000269980.2:p.Lys400=
ENST00000457836.6:c.1207A=	ENSP00000416000.2:p.Lys403=
ENST00000540732.3:c.1300A=	ENSP00000443246.1:p.Lys434=
ENST00000544905.1:c.62-34A=
ENST00000595085.5:c.922+1771A=	ENSP00000471150.2:n.922+1771A=
NM_000709.3:c.1198A=	NP_000700.1:p.Lys400=
NM_001164783.1:c.1195A=	NP_001158255.1:p.Lys399=
NM_000709.4:c.1198A= MANE Select	NP_000700.1:p.Lys400=
NM_001164783.2:c.1195A=	NP_001158255.1:p.Lys399=