Canonical Allele Identifier: CA320767
Community Standard Title: NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
Gene: NDUFS3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582181G>C , CM000673.2:g.47582181G>C GRCh38
NC_000011.9:g.47603733G>C , CM000673.1:g.47603733G>C GRCh37
NC_000011.8:g.47560309G>C NCBI36
NG_011946.1:g.8172G>C
NG_011946.2:g.8172G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004551.3:c.475G>C MANE Select NP_004542.1:p.Val159Leu
ENST00000263774.9:c.475G>C MANE Select ENSP00000263774.4:p.Val159Leu
NM_004551.2:c.475G>C NP_004542.1:p.Val159Leu
ENST00000263774.8:c.475G>C ENSP00000263774.4:p.Val159Leu
ENST00000524568.1:n.578G>C
ENST00000525212.1:n.130G>C
ENST00000525378.5:n.413G>C
ENST00000531351.2:n.1535G>C
ENST00000533507.5:n.1369G>C
ENST00000677462.1:n.2949G>C
ENST00000678975.1:n.2732G>C
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