Canonical Allele Identifier: CA2876261
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs767330786
gnomAD v2: 4-24801471-A-T
gnomAD v3: 4-24799849-A-T
gnomAD v4: 4-24799849-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799849A>T , CM000666.2:g.24799849A>T GRCh38
NC_000004.11:g.24801471A>T , CM000666.1:g.24801471A>T GRCh37
NC_000004.10:g.24410569A>T NCBI36
NG_012213.1:g.9387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.328A>T MANE Select ENSP00000371554.3:p.Ser110Cys
ENST00000382120.3:c.328A>T ENSP00000371554.3:p.Ser110Cys
NM_003102.2:c.328A>T NP_003093.2:p.Ser110Cys
XR_427488.1:n.518A>T
NM_003102.3:c.328A>T NP_003093.2:p.Ser110Cys
NM_003102.4:c.328A>T MANE Select NP_003093.2:p.Ser110Cys