Canonical Allele Identifier: CA2336459088

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422381T= , CM000681.2:g.41422381T=	GRCh38
NC_000019.9:g.41928286T= , CM000681.1:g.41928286T=	GRCh37
NC_000019.8:g.46620126T=	NCBI36
NG_013004.1:g.29593T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+11T= MANE Select	ENSP00000269980.2:n.853+11T=
ENST00000269980.6:c.853+11T=	ENSP00000269980.2:n.853+11T=
ENST00000457836.6:c.787+11T=	ENSP00000416000.2:n.787+11T=
ENST00000535632.5:n.482+11T=
ENST00000540732.3:c.955+11T=	ENSP00000443246.1:n.955+11T=
ENST00000542943.5:c.766+11T=	ENSP00000440345.1:n.766+11T=
ENST00000545787.1:n.481+11T=
ENST00000595085.5:c.853+11T=	ENSP00000471150.2:n.853+11T=
NM_000709.3:c.853+11T=	NP_000700.1:n.853+11T=
NM_001164783.1:c.853+11T=	NP_001158255.1:n.853+11T=
NM_000709.4:c.853+11T= MANE Select	NP_000700.1:n.853+11T=
NM_001164783.2:c.853+11T=	NP_001158255.1:n.853+11T=