Canonical Allele Identifier: CA94297273
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs776694242
gnomAD v3: 4-24800432-C-G
gnomAD v4: 4-24800432-C-G
MyVariant Identifiers: chr4:g.24802054C>G (hg19) chr4:g.24800432C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800432C>G , CM000666.2:g.24800432C>G GRCh38
NC_000004.11:g.24802054C>G , CM000666.1:g.24802054C>G GRCh37
NC_000004.10:g.24411152C>G NCBI36
NG_012213.1:g.9970C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*188C>G MANE Select ENSP00000371554.3:n.*188C>G
ENST00000382120.3:c.*188C>G ENSP00000371554.3:n.*188C>G
NM_003102.2:c.*188C>G NP_003093.2:n.*188C>G
XR_427488.1:n.1101C>G
NM_003102.3:c.*188C>G NP_003093.2:n.*188C>G
NM_003102.4:c.*188C>G MANE Select NP_003093.2:n.*188C>G
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