Canonical Allele Identifier: CA2876227
Gene: SOD3 HGNC NCBI
COSMIC:
COSM3749868 (not active)
MyVariant.info:
GRCh38 chr4:g.24799693G>A
GRCh37 chr4:g.24801315G>A
Revel Score:
ENST00000382120 (MANE Select) 0.011
gnomAD v2:
4:24801315 G / A
gnomAD v3:
4:24799693 G / A
gnomAD v4:
chr4-24799693-G-A
Joint Max Group AF 0.6539113 (NFE)
Genomes Max Group AF 0.64795994 (NFE)
Exomes Max Group AF 0.65400263 (NFE)
ClinVar RCV:
RCV003982346
ClinVar Variation:
3060834
dbSNP:
2536512
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799693G>A , CM000666.2:g.24799693G>A GRCh38
NC_000004.11:g.24801315G>A , CM000666.1:g.24801315G>A GRCh37
NC_000004.10:g.24410413G>A NCBI36
NG_012213.1:g.9231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.172G>A MANE Select ENSP00000371554.3:p.Ala58Thr
ENST00000382120.3:c.172G>A ENSP00000371554.3:p.Ala58Thr
NM_003102.2:c.172G>A NP_003093.2:p.Ala58Thr
XR_427488.1:n.362G>A
NM_003102.3:c.172G>A NP_003093.2:p.Ala58Thr
NM_003102.4:c.172G>A MANE Select NP_003093.2:p.Ala58Thr
Search 100 bp 5'
Search 100 bp 3'