Canonical Allele Identifier: CA438902060
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs2109071507
gnomAD v4: 4-24800019-G-A
MyVariant Identifiers: chr4:g.24801641G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800019G>A , CM000666.2:g.24800019G>A GRCh38
NC_000004.11:g.24801641G>A , CM000666.1:g.24801641G>A GRCh37
NC_000004.10:g.24410739G>A NCBI36
NG_012213.1:g.9557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.498G>A MANE Select ENSP00000371554.3:p.Ser166=
ENST00000382120.3:c.498G>A ENSP00000371554.3:p.Ser166=
NM_003102.2:c.498G>A NP_003093.2:p.Ser166=
XR_427488.1:n.688G>A
NM_003102.3:c.498G>A NP_003093.2:p.Ser166=
NM_003102.4:c.498G>A MANE Select NP_003093.2:p.Ser166=