Canonical Allele Identifier: CA5977938
Gene: NDUFS3 HGNC NCBI
COSMIC:
COSM6332156 (not active)
MyVariant.info:
GRCh38 chr11:g.47580977G>A
GRCh37 chr11:g.47602529G>A
Revel Score:
ENST00000263774 (MANE Select) 0.757
ENST00000528192 0.757
ENST00000534716 0.757
gnomAD v2:
11:47602529 G / A
gnomAD v3:
11:47580977 G / A
gnomAD v4:
chr11-47580977-G-A
Joint Max Group AF 0.00018076 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00019167 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47580977G>A , CM000673.2:g.47580977G>A GRCh38
NC_000011.9:g.47602529G>A , CM000673.1:g.47602529G>A GRCh37
NC_000011.8:g.47559105G>A NCBI36
NG_011946.1:g.6968G>A
NG_011946.2:g.6968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.374G>A MANE Select ENSP00000263774.4:p.Arg125His
ENST00000531351.2:n.331G>A
ENST00000677462.1:n.1745G>A
ENST00000678975.1:n.1528G>A
ENST00000263774.8:c.374G>A ENSP00000263774.4:p.Arg125His
ENST00000524568.1:n.477G>A
ENST00000528192.5:c.374G>A ENSP00000432099.1:p.Arg125His
ENST00000531351.1:n.289G>A
ENST00000533507.5:n.1268G>A
ENST00000534716.2:c.374G>A ENSP00000434970.2:p.Arg125His
NM_004551.2:c.374G>A NP_004542.1:p.Arg125His
NM_004551.3:c.374G>A MANE Select NP_004542.1:p.Arg125His
Search 100 bp 5'
Search 100 bp 3'