Canonical Allele Identifier: CA2670208948
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800258-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800258C>A , CM000666.2:g.24800258C>A GRCh38
NC_000004.11:g.24801880C>A , CM000666.1:g.24801880C>A GRCh37
NC_000004.10:g.24410978C>A NCBI36
NG_012213.1:g.9796C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*14C>A MANE Select ENSP00000371554.3:n.*14C>A
ENST00000382120.3:c.*14C>A ENSP00000371554.3:n.*14C>A
NM_003102.2:c.*14C>A NP_003093.2:n.*14C>A
XR_427488.1:n.927C>A
NM_003102.3:c.*14C>A NP_003093.2:n.*14C>A
NM_003102.4:c.*14C>A MANE Select NP_003093.2:n.*14C>A