Canonical Allele Identifier: CA94296678
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs867242499
gnomAD v2: 4-24796611-G-A
gnomAD v3: 4-24794989-G-A
gnomAD v4: 4-24794989-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794989G>A , CM000666.2:g.24794989G>A GRCh38
NC_000004.11:g.24796611G>A , CM000666.1:g.24796611G>A GRCh37
NC_000004.10:g.24405709G>A NCBI36
NG_012213.1:g.4527G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000598411.1:c.-16-4517G>A ENSP00000472134.1:n.-16-4517G>A