Canonical Allele Identifier: CA406013214

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928542G>C (hg19) ; chr19:g.41422637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422637G>C , CM000681.2:g.41422637G>C	GRCh38
NC_000019.9:g.41928542G>C , CM000681.1:g.41928542G>C	GRCh37
NC_000019.8:g.46620382G>C	NCBI36
NG_013004.1:g.29849G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.862G>C MANE Select	ENSP00000269980.2:p.Gly288Arg
ENST00000269980.6:c.862G>C	ENSP00000269980.2:p.Gly288Arg
ENST00000457836.6:c.796G>C	ENSP00000416000.2:p.Gly266Arg
ENST00000535632.5:n.491G>C
ENST00000540732.3:c.964G>C	ENSP00000443246.1:p.Gly322Arg
ENST00000542943.5:c.775G>C	ENSP00000440345.1:p.Gly259Arg
ENST00000545787.1:n.490G>C
ENST00000595085.5:c.862G>C	ENSP00000471150.2:p.Gly288Arg
NM_000709.3:c.862G>C	NP_000700.1:p.Gly288Arg
NM_001164783.1:c.859G>C	NP_001158255.1:p.Gly287Arg
NM_000709.4:c.862G>C MANE Select	NP_000700.1:p.Gly288Arg
NM_001164783.2:c.859G>C	NP_001158255.1:p.Gly287Arg