Canonical Allele Identifier: CA1060301191
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713604286
gnomAD v3: 4-24794907-T-C
gnomAD v4: 4-24794907-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794907T>C , CM000666.2:g.24794907T>C GRCh38
NC_000004.11:g.24796529T>C , CM000666.1:g.24796529T>C GRCh37
NC_000004.10:g.24405627T>C NCBI36
NG_012213.1:g.4445T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4599T>C ENSP00000472134.1:n.-16-4599T>C