Canonical Allele Identifier: CA2670208906
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800084del , CM000666.2:g.24800084del GRCh38
NC_000004.11:g.24801706del , CM000666.1:g.24801706del GRCh37
NC_000004.10:g.24410804del NCBI36
NG_012213.1:g.9622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.563del MANE Select ENSP00000371554.3:p.Gly188AlafsTer?
ENST00000382120.3:c.563del ENSP00000371554.3:p.Gly188AlafsTer?
NM_003102.2:c.563del NP_003093.2:p.Gly188AlafsTer?
XR_427488.1:n.753del
NM_003102.3:c.563del NP_003093.2:p.Gly188AlafsTer?
NM_003102.4:c.563del MANE Select NP_003093.2:p.Gly188AlafsTer?