Canonical Allele Identifier: CA2670209408
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800415-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800415C>A , CM000666.2:g.24800415C>A GRCh38
NC_000004.11:g.24802037C>A , CM000666.1:g.24802037C>A GRCh37
NC_000004.10:g.24411135C>A NCBI36
NG_012213.1:g.9953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*171C>A MANE Select ENSP00000371554.3:n.*171C>A
ENST00000382120.3:c.*171C>A ENSP00000371554.3:n.*171C>A
NM_003102.2:c.*171C>A NP_003093.2:n.*171C>A
XR_427488.1:n.1084C>A
NM_003102.3:c.*171C>A NP_003093.2:n.*171C>A
NM_003102.4:c.*171C>A MANE Select NP_003093.2:n.*171C>A