Canonical Allele Identifier: CA2613426943
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582598T>C , CM000673.2:g.47582598T>C GRCh38
NC_000011.9:g.47604150T>C , CM000673.1:g.47604150T>C GRCh37
NC_000011.8:g.47560726T>C NCBI36
NG_011946.1:g.8589T>C
NG_011946.2:g.8589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.627+130T>C MANE Select ENSP00000263774.4:n.627+130T>C
ENST00000531351.2:n.1822+130T>C
ENST00000677462.1:n.3101+130T>C
ENST00000678975.1:n.2884+130T>C
ENST00000263774.8:c.627+130T>C ENSP00000263774.4:n.627+130T>C
ENST00000525212.1:n.282+130T>C
ENST00000525378.5:n.565+130T>C
ENST00000527178.1:n.227+130T>C
ENST00000533507.5:n.1521+130T>C
NM_004551.2:c.627+130T>C NP_004542.1:n.627+130T>C
NM_004551.3:c.627+130T>C MANE Select NP_004542.1:n.627+130T>C