Canonical Allele Identifier: CA550461764
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1302910933
gnomAD v2: 4-24796701-G-A
gnomAD v3: 4-24795079-G-A
gnomAD v4: 4-24795079-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24795079G>A , CM000666.2:g.24795079G>A GRCh38
NC_000004.11:g.24796701G>A , CM000666.1:g.24796701G>A GRCh37
NC_000004.10:g.24405799G>A NCBI36
NG_012213.1:g.4617G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000598411.1:c.-16-4427G>A ENSP00000472134.1:n.-16-4427G>A