Canonical Allele Identifier: CA117917
Gene: NDUFS3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6020
dbSNP Id: rs104894270

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582436C>T , CM000673.2:g.47582436C>T GRCh38
NC_000011.9:g.47603988C>T , CM000673.1:g.47603988C>T GRCh37
NC_000011.8:g.47560564C>T NCBI36
NG_011946.1:g.8427C>T

Transcript Alleles

HGVS Amino-acid change
NM_004551.2:c.595C>T VV NP_004542.1:p.Arg199Trp
ENST00000263774.8:c.595C>T ENSP00000263774.4:p.Arg199Trp
ENST00000524568.1:n.698C>T
ENST00000525212.1:n.250C>T
ENST00000525378.5:n.533C>T
ENST00000527178.1:n.195C>T
ENST00000533507.5:n.1489C>T