Canonical Allele Identifier: CA1445032680
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713784914

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799829del , CM000666.2:g.24799829del GRCh38
NC_000004.11:g.24801451del , CM000666.1:g.24801451del GRCh37
NC_000004.10:g.24410549del NCBI36
NG_012213.1:g.9367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.308del MANE Select ENSP00000371554.3:p.Pro103ArgfsTer19
ENST00000382120.3:c.308del ENSP00000371554.3:p.Pro103ArgfsTer19
NM_003102.2:c.308del NP_003093.2:p.Pro103ArgfsTer19
XR_427488.1:n.498del
NM_003102.3:c.308del NP_003093.2:p.Pro103ArgfsTer19
NM_003102.4:c.308del MANE Select NP_003093.2:p.Pro103ArgfsTer19