Canonical Allele Identifier: CA474432198
Gene: NDUFS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47603909C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582357C>T , CM000673.2:g.47582357C>T GRCh38
NC_000011.9:g.47603909C>T , CM000673.1:g.47603909C>T GRCh37
NC_000011.8:g.47560485C>T NCBI36
NG_011946.1:g.8348C>T
NG_011946.2:g.8348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.516C>T MANE Select ENSP00000263774.4:p.Asp172=
ENST00000531351.2:n.1711C>T
ENST00000677462.1:n.2990C>T
ENST00000678975.1:n.2773C>T
ENST00000263774.8:c.516C>T ENSP00000263774.4:p.Asp172=
ENST00000524568.1:n.619C>T
ENST00000525212.1:n.171C>T
ENST00000525378.5:n.454C>T
ENST00000527178.1:n.116C>T
ENST00000533507.5:n.1410C>T
NM_004551.2:c.516C>T NP_004542.1:p.Asp172=
NM_004551.3:c.516C>T MANE Select NP_004542.1:p.Asp172=