Canonical Allele Identifier: CA380362016
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582445T>C , CM000673.2:g.47582445T>C GRCh38
NC_000011.9:g.47603997T>C , CM000673.1:g.47603997T>C GRCh37
NC_000011.8:g.47560573T>C NCBI36
NG_011946.1:g.8436T>C
NG_011946.2:g.8436T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.604T>C MANE Select ENSP00000263774.4:p.Phe202Leu
ENST00000531351.2:n.1799T>C
ENST00000677462.1:n.3078T>C
ENST00000678975.1:n.2861T>C
ENST00000263774.8:c.604T>C ENSP00000263774.4:p.Phe202Leu
ENST00000524568.1:n.707T>C
ENST00000525212.1:n.259T>C
ENST00000525378.5:n.542T>C
ENST00000527178.1:n.204T>C
ENST00000533507.5:n.1498T>C
NM_004551.2:c.604T>C NP_004542.1:p.Phe202Leu
NM_004551.3:c.604T>C MANE Select NP_004542.1:p.Phe202Leu