Canonical Allele Identifier: CA94297242
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs914551078
gnomAD v3: 4-24800104-A-G
gnomAD v4: 4-24800104-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800104A>G , CM000666.2:g.24800104A>G GRCh38
NC_000004.11:g.24801726A>G , CM000666.1:g.24801726A>G GRCh37
NC_000004.10:g.24410824A>G NCBI36
NG_012213.1:g.9642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.583A>G MANE Select ENSP00000371554.3:p.Ser195Gly
ENST00000382120.3:c.583A>G ENSP00000371554.3:p.Ser195Gly
NM_003102.2:c.583A>G NP_003093.2:p.Ser195Gly
XR_427488.1:n.773A>G
NM_003102.3:c.583A>G NP_003093.2:p.Ser195Gly
NM_003102.4:c.583A>G MANE Select NP_003093.2:p.Ser195Gly