Canonical Allele Identifier: CA2594405616
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1175713629
gnomAD v3: 4-24794810-C-G
gnomAD v4: 4-24794810-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794810C>G , CM000666.2:g.24794810C>G GRCh38
NC_000004.11:g.24796432C>G , CM000666.1:g.24796432C>G GRCh37
NC_000004.10:g.24405530C>G NCBI36
NG_012213.1:g.4348C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4696C>G ENSP00000472134.1:n.-16-4696C>G