Canonical Allele Identifier: CA2670209216
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800358-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800358T>C , CM000666.2:g.24800358T>C GRCh38
NC_000004.11:g.24801980T>C , CM000666.1:g.24801980T>C GRCh37
NC_000004.10:g.24411078T>C NCBI36
NG_012213.1:g.9896T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*114T>C MANE Select ENSP00000371554.3:n.*114T>C
ENST00000382120.3:c.*114T>C ENSP00000371554.3:n.*114T>C
NM_003102.2:c.*114T>C NP_003093.2:n.*114T>C
XR_427488.1:n.1027T>C
NM_003102.3:c.*114T>C NP_003093.2:n.*114T>C
NM_003102.4:c.*114T>C MANE Select NP_003093.2:n.*114T>C
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