Canonical Allele Identifier: CA2670208895
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799879del , CM000666.2:g.24799879del GRCh38
NC_000004.11:g.24801501del , CM000666.1:g.24801501del GRCh37
NC_000004.10:g.24410599del NCBI36
NG_012213.1:g.9417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.358del MANE Select ENSP00000371554.3:p.Asp120ThrfsTer2
ENST00000382120.3:c.358del ENSP00000371554.3:p.Asp120ThrfsTer2
NM_003102.2:c.358del NP_003093.2:p.Asp120ThrfsTer2
XR_427488.1:n.548del
NM_003102.3:c.358del NP_003093.2:p.Asp120ThrfsTer2
NM_003102.4:c.358del MANE Select NP_003093.2:p.Asp120ThrfsTer2