Canonical Allele Identifier: CA550461757
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1483534197
gnomAD v2: 4-24796620-G-A
gnomAD v3: 4-24794998-G-A
gnomAD v4: 4-24794998-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794998G>A , CM000666.2:g.24794998G>A GRCh38
NC_000004.11:g.24796620G>A , CM000666.1:g.24796620G>A GRCh37
NC_000004.10:g.24405718G>A NCBI36
NG_012213.1:g.4536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4508G>A ENSP00000472134.1:n.-16-4508G>A