Canonical Allele Identifier: CA2336459143

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422495A= , CM000681.2:g.41422495A=	GRCh38
NC_000019.9:g.41928400A= , CM000681.1:g.41928400A=	GRCh37
NC_000019.8:g.46620240A=	NCBI36
NG_013004.1:g.29707A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+125A= MANE Select	ENSP00000269980.2:n.853+125A=
ENST00000269980.6:c.853+125A=	ENSP00000269980.2:n.853+125A=
ENST00000457836.6:c.787+125A=	ENSP00000416000.2:n.787+125A=
ENST00000535632.5:n.482+125A=
ENST00000540732.3:c.955+125A=	ENSP00000443246.1:n.955+125A=
ENST00000542943.5:c.766+125A=	ENSP00000440345.1:n.766+125A=
ENST00000545787.1:n.481+125A=
ENST00000595085.5:c.853+125A=	ENSP00000471150.2:n.853+125A=
NM_000709.3:c.853+125A=	NP_000700.1:n.853+125A=
NM_001164783.1:c.853+125A=	NP_001158255.1:n.853+125A=
NM_000709.4:c.853+125A= MANE Select	NP_000700.1:n.853+125A=
NM_001164783.2:c.853+125A=	NP_001158255.1:n.853+125A=