Canonical Allele Identifier: CA1060283517
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713856068
gnomAD v3: 4-24800374-C-T
gnomAD v4: 4-24800374-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800374C>T , CM000666.2:g.24800374C>T GRCh38
NC_000004.11:g.24801996C>T , CM000666.1:g.24801996C>T GRCh37
NC_000004.10:g.24411094C>T NCBI36
NG_012213.1:g.9912C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*130C>T MANE Select ENSP00000371554.3:n.*130C>T
ENST00000382120.3:c.*130C>T ENSP00000371554.3:n.*130C>T
NM_003102.2:c.*130C>T NP_003093.2:n.*130C>T
XR_427488.1:n.1043C>T
NM_003102.3:c.*130C>T NP_003093.2:n.*130C>T
NM_003102.4:c.*130C>T MANE Select NP_003093.2:n.*130C>T
Search 100 bp 5'
Search 100 bp 3'