Canonical Allele Identifier: CA94296675
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1053292630
gnomAD v3: 4-24794981-C-T
gnomAD v4: 4-24794981-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794981C>T , CM000666.2:g.24794981C>T GRCh38
NC_000004.11:g.24796603C>T , CM000666.1:g.24796603C>T GRCh37
NC_000004.10:g.24405701C>T NCBI36
NG_012213.1:g.4519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4525C>T ENSP00000472134.1:n.-16-4525C>T