Canonical Allele Identifier: CA2670209020
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800296-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800296T>G , CM000666.2:g.24800296T>G GRCh38
NC_000004.11:g.24801918T>G , CM000666.1:g.24801918T>G GRCh37
NC_000004.10:g.24411016T>G NCBI36
NG_012213.1:g.9834T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*52T>G MANE Select ENSP00000371554.3:n.*52T>G
ENST00000382120.3:c.*52T>G ENSP00000371554.3:n.*52T>G
NM_003102.2:c.*52T>G NP_003093.2:n.*52T>G
XR_427488.1:n.965T>G
NM_003102.3:c.*52T>G NP_003093.2:n.*52T>G
NM_003102.4:c.*52T>G MANE Select NP_003093.2:n.*52T>G
Search 100 bp 5'
Search 100 bp 3'