Canonical Allele Identifier: CA380361557
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582353G>T , CM000673.2:g.47582353G>T GRCh38
NC_000011.9:g.47603905G>T , CM000673.1:g.47603905G>T GRCh37
NC_000011.8:g.47560481G>T NCBI36
NG_011946.1:g.8344G>T
NG_011946.2:g.8344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.512G>T MANE Select ENSP00000263774.4:p.Trp171Leu
ENST00000531351.2:n.1707G>T
ENST00000677462.1:n.2986G>T
ENST00000678975.1:n.2769G>T
ENST00000263774.8:c.512G>T ENSP00000263774.4:p.Trp171Leu
ENST00000524568.1:n.615G>T
ENST00000525212.1:n.167G>T
ENST00000525378.5:n.450G>T
ENST00000527178.1:n.112G>T
ENST00000533507.5:n.1406G>T
NM_004551.2:c.512G>T NP_004542.1:p.Trp171Leu
NM_004551.3:c.512G>T MANE Select NP_004542.1:p.Trp171Leu