Canonical Allele Identifier: CA221176
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93335
dbSNP Id: rs182923857

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423038C>T , CM000681.2:g.41423038C>T GRCh38
NC_000019.9:g.41928943C>T , CM000681.1:g.41928943C>T GRCh37
NC_000019.8:g.46620783C>T NCBI36
NG_013004.1:g.30250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1036C>T MANE Select ENSP00000269980.2:p.Arg346Cys
ENST00000269980.6:c.1036C>T ENSP00000269980.2:p.Arg346Cys
ENST00000457836.6:c.1045C>T ENSP00000416000.2:p.Arg349Cys
ENST00000540732.3:c.1138C>T ENSP00000443246.1:p.Arg380Cys
ENST00000542943.5:c.949C>T ENSP00000440345.1:p.Arg317Cys
ENST00000595085.5:c.922+341C>T ENSP00000471150.2:n.922+341C>T
NM_000709.3:c.1036C>T NP_000700.1:p.Arg346Cys
NM_001164783.1:c.1033C>T NP_001158255.1:p.Arg345Cys
NM_000709.4:c.1036C>T MANE Select NP_000700.1:p.Arg346Cys
NM_001164783.2:c.1033C>T NP_001158255.1:p.Arg345Cys