Canonical Allele Identifier: CA122703
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 12777
ClinVar RCV Id: RCV000013615
dbSNP Id: rs1799895
gnomAD v2: 4-24801834-C-G
gnomAD v3: 4-24800212-C-G
gnomAD v4: 4-24800212-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800212C>G , CM000666.2:g.24800212C>G GRCh38
NC_000004.11:g.24801834C>G , CM000666.1:g.24801834C>G GRCh37
NC_000004.10:g.24410932C>G NCBI36
NG_012213.1:g.9750C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382120.4:c.691C>G MANE Select ENSP00000371554.3:p.Arg231Gly
ENST00000382120.3:c.691C>G ENSP00000371554.3:p.Arg231Gly
NM_003102.2:c.691C>G NP_003093.2:p.Arg231Gly
XR_427488.1:n.881C>G
NM_003102.3:c.691C>G NP_003093.2:p.Arg231Gly
NM_003102.4:c.691C>G MANE Select NP_003093.2:p.Arg231Gly