Canonical Allele Identifier: CA2336459248

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422724G= , CM000681.2:g.41422724G=	GRCh38
NC_000019.9:g.41928629G= , CM000681.1:g.41928629G=	GRCh37
NC_000019.8:g.46620469G=	NCBI36
NG_013004.1:g.29936G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.949G= MANE Select	ENSP00000269980.2:p.Ala317=
ENST00000269980.6:c.949G=	ENSP00000269980.2:p.Ala317=
ENST00000457836.6:c.883G=	ENSP00000416000.2:p.Ala295=
ENST00000535632.5:n.578G=
ENST00000540732.3:c.1051G=	ENSP00000443246.1:p.Ala351=
ENST00000542943.5:c.862G=	ENSP00000440345.1:p.Ala288=
ENST00000545787.1:n.577G=
ENST00000595085.5:c.922+27G=	ENSP00000471150.2:n.922+27G=
NM_000709.3:c.949G=	NP_000700.1:p.Ala317=
NM_001164783.1:c.946G=	NP_001158255.1:p.Ala316=
NM_000709.4:c.949G= MANE Select	NP_000700.1:p.Ala317=
NM_001164783.2:c.946G=	NP_001158255.1:p.Ala316=