Canonical Allele Identifier: CA356640064
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800076-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800076C>A , CM000666.2:g.24800076C>A GRCh38
NC_000004.11:g.24801698C>A , CM000666.1:g.24801698C>A GRCh37
NC_000004.10:g.24410796C>A NCBI36
NG_012213.1:g.9614C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.555C>A MANE Select ENSP00000371554.3:p.Asp185Glu
ENST00000382120.3:c.555C>A ENSP00000371554.3:p.Asp185Glu
NM_003102.2:c.555C>A NP_003093.2:p.Asp185Glu
XR_427488.1:n.745C>A
NM_003102.3:c.555C>A NP_003093.2:p.Asp185Glu
NM_003102.4:c.555C>A MANE Select NP_003093.2:p.Asp185Glu