Canonical Allele Identifier: CA2336459100

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422400C= , CM000681.2:g.41422400C=	GRCh38
NC_000019.9:g.41928305C= , CM000681.1:g.41928305C=	GRCh37
NC_000019.8:g.46620145C=	NCBI36
NG_013004.1:g.29612C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+30C= MANE Select	ENSP00000269980.2:n.853+30C=
ENST00000269980.6:c.853+30C=	ENSP00000269980.2:n.853+30C=
ENST00000457836.6:c.787+30C=	ENSP00000416000.2:n.787+30C=
ENST00000535632.5:n.482+30C=
ENST00000540732.3:c.955+30C=	ENSP00000443246.1:n.955+30C=
ENST00000542943.5:c.766+30C=	ENSP00000440345.1:n.766+30C=
ENST00000545787.1:n.481+30C=
ENST00000595085.5:c.853+30C=	ENSP00000471150.2:n.853+30C=
NM_000709.3:c.853+30C=	NP_000700.1:n.853+30C=
NM_001164783.1:c.853+30C=	NP_001158255.1:n.853+30C=
NM_000709.4:c.853+30C= MANE Select	NP_000700.1:n.853+30C=
NM_001164783.2:c.853+30C=	NP_001158255.1:n.853+30C=