Canonical Allele Identifier: CA645517239
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799711del , CM000666.2:g.24799711del GRCh38
NC_000004.11:g.24801333del , CM000666.1:g.24801333del GRCh37
NC_000004.10:g.24410431del NCBI36
NG_012213.1:g.9249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.190del MANE Select ENSP00000371554.3:p.Gln64ArgfsTer15
ENST00000382120.3:c.190del ENSP00000371554.3:p.Gln64ArgfsTer15
NM_003102.2:c.190del NP_003093.2:p.Gln64ArgfsTer15
XR_427488.1:n.380del
NM_003102.3:c.190del NP_003093.2:p.Gln64ArgfsTer15
NM_003102.4:c.190del MANE Select NP_003093.2:p.Gln64ArgfsTer15