Canonical Allele Identifier: CA380361546
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582352T>A , CM000673.2:g.47582352T>A GRCh38
NC_000011.9:g.47603904T>A , CM000673.1:g.47603904T>A GRCh37
NC_000011.8:g.47560480T>A NCBI36
NG_011946.1:g.8343T>A
NG_011946.2:g.8343T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263774.9:c.511T>A MANE Select ENSP00000263774.4:p.Trp171Arg
ENST00000531351.2:n.1706T>A
ENST00000677462.1:n.2985T>A
ENST00000678975.1:n.2768T>A
ENST00000263774.8:c.511T>A ENSP00000263774.4:p.Trp171Arg
ENST00000524568.1:n.614T>A
ENST00000525212.1:n.166T>A
ENST00000525378.5:n.449T>A
ENST00000527178.1:n.111T>A
ENST00000533507.5:n.1405T>A
NM_004551.2:c.511T>A NP_004542.1:p.Trp171Arg
NM_004551.3:c.511T>A MANE Select NP_004542.1:p.Trp171Arg