Canonical Allele Identifier: CA2791339176
Gene: NDUFS3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582263T>C , CM000673.2:g.47582263T>C GRCh38
NC_000011.9:g.47603815T>C , CM000673.1:g.47603815T>C GRCh37
NC_000011.8:g.47560391T>C NCBI36
NG_011946.1:g.8254T>C
NG_011946.2:g.8254T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263774.9:c.507+50T>C MANE Select ENSP00000263774.4:n.507+50T>C
ENST00000531351.2:n.1617T>C
ENST00000677462.1:n.2981+50T>C
ENST00000678975.1:n.2764+50T>C
ENST00000263774.8:c.507+50T>C ENSP00000263774.4:n.507+50T>C
ENST00000524568.1:n.610+50T>C
ENST00000525212.1:n.162+50T>C
ENST00000525378.5:n.445+50T>C
ENST00000527178.1:n.22T>C
ENST00000533507.5:n.1401+50T>C
NM_004551.2:c.507+50T>C NP_004542.1:n.507+50T>C
NM_004551.3:c.507+50T>C MANE Select NP_004542.1:n.507+50T>C
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