Canonical Allele Identifier: CA793261102
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1196022122
gnomAD v3: 4-24794801-A-G
gnomAD v4: 4-24794801-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794801A>G , CM000666.2:g.24794801A>G GRCh38
NC_000004.11:g.24796423A>G , CM000666.1:g.24796423A>G GRCh37
NC_000004.10:g.24405521A>G NCBI36
NG_012213.1:g.4339A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-17+4699A>G ENSP00000472134.1:n.-17+4699A>G