Canonical Allele Identifier: CA115515
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2380
ClinVar RCV Id: RCV000002479
dbSNP Id: rs137852874

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422262G>A , CM000681.2:g.41422262G>A GRCh38
NC_000019.9:g.41928167G>A , CM000681.1:g.41928167G>A GRCh37
NC_000019.8:g.46620007G>A NCBI36
NG_013004.1:g.29474G>A

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.745G>A VV NP_000700.1:p.Gly249Ser
NM_001164783.1:c.745G>A VV NP_001158255.1:p.Gly249Ser
NM_000709.4:c.745G>A VV MANE Preferred
ENST00000269980.6:c.745G>A ENSP00000269980.2:p.Gly249Ser
ENST00000457836.6:c.679G>A ENSP00000416000.2:p.Gly227Ser
ENST00000535632.5:n.374G>A
ENST00000540732.3:c.847G>A ENSP00000443246.1:p.Gly283Ser
ENST00000542943.5:c.658G>A ENSP00000440345.1:p.Gly220Ser
ENST00000545787.1:n.373G>A
ENST00000595085.5:c.745G>A ENSP00000471150.2:p.Gly249Ser