Canonical Allele Identifier: CA356640128
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs2109071617
gnomAD v3: 4-24800092-G-A
gnomAD v4: 4-24800092-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800092G>A , CM000666.2:g.24800092G>A GRCh38
NC_000004.11:g.24801714G>A , CM000666.1:g.24801714G>A GRCh37
NC_000004.10:g.24410812G>A NCBI36
NG_012213.1:g.9630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.571G>A MANE Select ENSP00000371554.3:p.Gly191Ser
ENST00000382120.3:c.571G>A ENSP00000371554.3:p.Gly191Ser
NM_003102.2:c.571G>A NP_003093.2:p.Gly191Ser
XR_427488.1:n.761G>A
NM_003102.3:c.571G>A NP_003093.2:p.Gly191Ser
NM_003102.4:c.571G>A MANE Select NP_003093.2:p.Gly191Ser