Canonical Allele Identifier: CA380361542
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582350T>C , CM000673.2:g.47582350T>C GRCh38
NC_000011.9:g.47603902T>C , CM000673.1:g.47603902T>C GRCh37
NC_000011.8:g.47560478T>C NCBI36
NG_011946.1:g.8341T>C
NG_011946.2:g.8341T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263774.9:c.509T>C MANE Select ENSP00000263774.4:p.Ile170Thr
ENST00000531351.2:n.1704T>C
ENST00000677462.1:n.2983T>C
ENST00000678975.1:n.2766T>C
ENST00000263774.8:c.509T>C ENSP00000263774.4:p.Ile170Thr
ENST00000524568.1:n.612T>C
ENST00000525212.1:n.164T>C
ENST00000525378.5:n.447T>C
ENST00000527178.1:n.109T>C
ENST00000533507.5:n.1403T>C
NM_004551.2:c.509T>C NP_004542.1:p.Ile170Thr
NM_004551.3:c.509T>C MANE Select NP_004542.1:p.Ile170Thr