Canonical Allele Identifier: CA356638874
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1319666873
gnomAD v2: 4-24801387-G-T
gnomAD v4: 4-24799765-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799765G>T , CM000666.2:g.24799765G>T GRCh38
NC_000004.11:g.24801387G>T , CM000666.1:g.24801387G>T GRCh37
NC_000004.10:g.24410485G>T NCBI36
NG_012213.1:g.9303G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.244G>T MANE Select ENSP00000371554.3:p.Val82Phe
ENST00000382120.3:c.244G>T ENSP00000371554.3:p.Val82Phe
NM_003102.2:c.244G>T NP_003093.2:p.Val82Phe
XR_427488.1:n.434G>T
NM_003102.3:c.244G>T NP_003093.2:p.Val82Phe
NM_003102.4:c.244G>T MANE Select NP_003093.2:p.Val82Phe