Canonical Allele Identifier: CA550455620
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1486876056
gnomAD v2: 4-24802004-A-G
gnomAD v3: 4-24800382-A-G
gnomAD v4: 4-24800382-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800382A>G , CM000666.2:g.24800382A>G GRCh38
NC_000004.11:g.24802004A>G , CM000666.1:g.24802004A>G GRCh37
NC_000004.10:g.24411102A>G NCBI36
NG_012213.1:g.9920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*138A>G MANE Select ENSP00000371554.3:n.*138A>G
ENST00000382120.3:c.*138A>G ENSP00000371554.3:n.*138A>G
NM_003102.2:c.*138A>G NP_003093.2:n.*138A>G
XR_427488.1:n.1051A>G
NM_003102.3:c.*138A>G NP_003093.2:n.*138A>G
NM_003102.4:c.*138A>G MANE Select NP_003093.2:n.*138A>G