Canonical Allele Identifier: CA356638466
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2407548
ClinVar RCV Id: RCV004237811
dbSNP Id: rs968426978
gnomAD v2: 4-24801312-G-C
gnomAD v3: 4-24799690-G-C
gnomAD v4: 4-24799690-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799690G>C , CM000666.2:g.24799690G>C GRCh38
NC_000004.11:g.24801312G>C , CM000666.1:g.24801312G>C GRCh37
NC_000004.10:g.24410410G>C NCBI36
NG_012213.1:g.9228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.169G>C MANE Select ENSP00000371554.3:p.Gly57Arg
ENST00000382120.3:c.169G>C ENSP00000371554.3:p.Gly57Arg
NM_003102.2:c.169G>C NP_003093.2:p.Gly57Arg
XR_427488.1:n.359G>C
NM_003102.3:c.169G>C NP_003093.2:p.Gly57Arg
NM_003102.4:c.169G>C MANE Select NP_003093.2:p.Gly57Arg