Canonical Allele Identifier: CA1060283525
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v3: 4-24800391-T-C
gnomAD v4: 4-24800391-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800391T>C , CM000666.2:g.24800391T>C GRCh38
NC_000004.11:g.24802013T>C , CM000666.1:g.24802013T>C GRCh37
NC_000004.10:g.24411111T>C NCBI36
NG_012213.1:g.9929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*147T>C MANE Select ENSP00000371554.3:n.*147T>C
ENST00000382120.3:c.*147T>C ENSP00000371554.3:n.*147T>C
NM_003102.2:c.*147T>C NP_003093.2:n.*147T>C
XR_427488.1:n.1060T>C
NM_003102.3:c.*147T>C NP_003093.2:n.*147T>C
NM_003102.4:c.*147T>C MANE Select NP_003093.2:n.*147T>C
Search 100 bp 5'
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