Canonical Allele Identifier: CA2670209276
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800378-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800378C>A , CM000666.2:g.24800378C>A GRCh38
NC_000004.11:g.24802000C>A , CM000666.1:g.24802000C>A GRCh37
NC_000004.10:g.24411098C>A NCBI36
NG_012213.1:g.9916C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*134C>A MANE Select ENSP00000371554.3:n.*134C>A
ENST00000382120.3:c.*134C>A ENSP00000371554.3:n.*134C>A
NM_003102.2:c.*134C>A NP_003093.2:n.*134C>A
XR_427488.1:n.1047C>A
NM_003102.3:c.*134C>A NP_003093.2:n.*134C>A
NM_003102.4:c.*134C>A MANE Select NP_003093.2:n.*134C>A
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