Canonical Allele Identifier: CA356638468
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs2109071156
gnomAD v3: 4-24799691-G-A
gnomAD v4: 4-24799691-G-A
COSMIC: COSM4628285
MyVariant Identifiers: chr4:g.24801313G>A (hg19) chr4:g.24799691G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799691G>A , CM000666.2:g.24799691G>A GRCh38
NC_000004.11:g.24801313G>A , CM000666.1:g.24801313G>A GRCh37
NC_000004.10:g.24410411G>A NCBI36
NG_012213.1:g.9229G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.170G>A MANE Select ENSP00000371554.3:p.Gly57Asp
ENST00000382120.3:c.170G>A ENSP00000371554.3:p.Gly57Asp
NM_003102.2:c.170G>A NP_003093.2:p.Gly57Asp
XR_427488.1:n.360G>A
NM_003102.3:c.170G>A NP_003093.2:p.Gly57Asp
NM_003102.4:c.170G>A MANE Select NP_003093.2:p.Gly57Asp
Search 100 bp 5'
Search 100 bp 3'