Canonical Allele Identifier: CA2336459221

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422680A= , CM000681.2:g.41422680A=	GRCh38
NC_000019.9:g.41928585A= , CM000681.1:g.41928585A=	GRCh37
NC_000019.8:g.46620425A=	NCBI36
NG_013004.1:g.29892A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.905A= MANE Select	NP_000700.1:p.Asp302=
ENST00000269980.7:c.905A= MANE Select	ENSP00000269980.2:p.Asp302=
NM_000709.3:c.905A=	NP_000700.1:p.Asp302=
NM_001164783.1:c.902A=	NP_001158255.1:p.Asp301=
NM_001164783.2:c.902A=	NP_001158255.1:p.Asp301=
ENST00000269980.6:c.905A=	ENSP00000269980.2:p.Asp302=
ENST00000457836.6:c.839A=	ENSP00000416000.2:p.Asp280=
ENST00000535632.5:n.534A=
ENST00000540732.3:c.1007A=	ENSP00000443246.1:p.Asp336=
ENST00000542943.5:c.818A=	ENSP00000440345.1:p.Asp273=
ENST00000545787.1:n.533A=
ENST00000595085.5:c.905A=	ENSP00000471150.2:p.Asp302=