Canonical Allele Identifier: CA115521

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422309C>G , CM000681.2:g.41422309C>G	GRCh38
NC_000019.9:g.41928214C>G , CM000681.1:g.41928214C>G	GRCh37
NC_000019.8:g.46620054C>G	NCBI36
NG_013004.1:g.29521C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.792C>G MANE Select	NP_000700.1:p.Cys264Trp
ENST00000269980.7:c.792C>G MANE Select	ENSP00000269980.2:p.Cys264Trp
NM_000709.3:c.792C>G	NP_000700.1:p.Cys264Trp
NM_001164783.1:c.792C>G	NP_001158255.1:p.Cys264Trp
NM_001164783.2:c.792C>G	NP_001158255.1:p.Cys264Trp
ENST00000269980.6:c.792C>G	ENSP00000269980.2:p.Cys264Trp
ENST00000457836.6:c.726C>G	ENSP00000416000.2:p.Cys242Trp
ENST00000535632.5:n.421C>G
ENST00000540732.3:c.894C>G	ENSP00000443246.1:p.Cys298Trp
ENST00000542943.5:c.705C>G	ENSP00000440345.1:p.Cys235Trp
ENST00000545787.1:n.420C>G
ENST00000595085.5:c.792C>G	ENSP00000471150.2:p.Cys264Trp