Canonical Allele Identifier: CA2670209462
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800435-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800435C>T , CM000666.2:g.24800435C>T GRCh38
NC_000004.11:g.24802057C>T , CM000666.1:g.24802057C>T GRCh37
NC_000004.10:g.24411155C>T NCBI36
NG_012213.1:g.9973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*191C>T MANE Select ENSP00000371554.3:n.*191C>T
ENST00000382120.3:c.*191C>T ENSP00000371554.3:n.*191C>T
NM_003102.2:c.*191C>T NP_003093.2:n.*191C>T
XR_427488.1:n.1104C>T
NM_003102.3:c.*191C>T NP_003093.2:n.*191C>T
NM_003102.4:c.*191C>T MANE Select NP_003093.2:n.*191C>T
Search 100 bp 5'
Search 100 bp 3'