Canonical Allele Identifier: CA1060301268
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713607820
gnomAD v3: 4-24795045-G-C
gnomAD v4: 4-24795045-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24795045G>C , CM000666.2:g.24795045G>C GRCh38
NC_000004.11:g.24796667G>C , CM000666.1:g.24796667G>C GRCh37
NC_000004.10:g.24405765G>C NCBI36
NG_012213.1:g.4583G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4461G>C ENSP00000472134.1:n.-16-4461G>C