Canonical Allele Identifier: CA1445033348
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713850727
gnomAD v4: 4-24800257-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800257C>T , CM000666.2:g.24800257C>T GRCh38
NC_000004.11:g.24801879C>T , CM000666.1:g.24801879C>T GRCh37
NC_000004.10:g.24410977C>T NCBI36
NG_012213.1:g.9795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*13C>T MANE Select ENSP00000371554.3:n.*13C>T
ENST00000382120.3:c.*13C>T ENSP00000371554.3:n.*13C>T
NM_003102.2:c.*13C>T NP_003093.2:n.*13C>T
XR_427488.1:n.926C>T
NM_003102.3:c.*13C>T NP_003093.2:n.*13C>T
NM_003102.4:c.*13C>T MANE Select NP_003093.2:n.*13C>T