Canonical Allele Identifier: CA9461092
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 457143
dbSNP Id: rs188135164

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410983C>T , CM000681.2:g.41410983C>T GRCh38
NC_000019.9:g.41916888C>T , CM000681.1:g.41916888C>T GRCh37
NC_000019.8:g.46608728C>T NCBI36
NG_013004.1:g.18195C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.349C>T MANE Select ENSP00000269980.2:p.Arg117Cys
ENST00000269980.6:c.349C>T ENSP00000269980.2:p.Arg117Cys
ENST00000457836.6:c.283C>T ENSP00000416000.2:p.Arg95Cys
ENST00000538423.5:n.475C>T
ENST00000540732.3:c.451C>T ENSP00000443246.1:p.Arg151Cys
ENST00000541315.1:c.156C>T
ENST00000542943.5:c.288+167C>T ENSP00000440345.1:n.288+167C>T
ENST00000595085.5:c.349C>T ENSP00000471150.2:p.Arg117Cys
NM_000709.3:c.349C>T NP_000700.1:p.Arg117Cys
NM_001164783.1:c.349C>T NP_001158255.1:p.Arg117Cys
NM_000709.4:c.349C>T MANE Select NP_000700.1:p.Arg117Cys
NM_001164783.2:c.349C>T NP_001158255.1:p.Arg117Cys