Canonical Allele Identifier: CA2791339177
Gene: NDUFS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582300dup , CM000673.2:g.47582300dup GRCh38
NC_000011.9:g.47603852dup , CM000673.1:g.47603852dup GRCh37
NC_000011.8:g.47560428dup NCBI36
NG_011946.1:g.8291dup
NG_011946.2:g.8291dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.508-49dup MANE Select ENSP00000263774.4:n.508-49dup
ENST00000531351.2:n.1654dup
ENST00000677462.1:n.2982-49dup
ENST00000678975.1:n.2765-49dup
ENST00000263774.8:c.508-49dup ENSP00000263774.4:n.508-49dup
ENST00000524568.1:n.611-49dup
ENST00000525212.1:n.163-49dup
ENST00000525378.5:n.446-49dup
ENST00000527178.1:n.59dup
ENST00000533507.5:n.1402-49dup
NM_004551.2:c.508-49dup NP_004542.1:n.508-49dup
NM_004551.3:c.508-49dup MANE Select NP_004542.1:n.508-49dup