Canonical Allele Identifier: CA793261087
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1420396511
gnomAD v3: 4-24794784-G-C
gnomAD v4: 4-24794784-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794784G>C , CM000666.2:g.24794784G>C GRCh38
NC_000004.11:g.24796406G>C , CM000666.1:g.24796406G>C GRCh37
NC_000004.10:g.24405504G>C NCBI36
NG_012213.1:g.4322G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-17+4682G>C ENSP00000472134.1:n.-17+4682G>C