Canonical Allele Identifier: CA356638694
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713779003
gnomAD v3: 4-24799730-C-T
gnomAD v4: 4-24799730-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799730C>T , CM000666.2:g.24799730C>T GRCh38
NC_000004.11:g.24801352C>T , CM000666.1:g.24801352C>T GRCh37
NC_000004.10:g.24410450C>T NCBI36
NG_012213.1:g.9268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.209C>T MANE Select ENSP00000371554.3:p.Thr70Met
ENST00000382120.3:c.209C>T ENSP00000371554.3:p.Thr70Met
NM_003102.2:c.209C>T NP_003093.2:p.Thr70Met
XR_427488.1:n.399C>T
NM_003102.3:c.209C>T NP_003093.2:p.Thr70Met
NM_003102.4:c.209C>T MANE Select NP_003093.2:p.Thr70Met