Canonical Allele Identifier: CA2876257
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3167446
ClinVar RCV Id: RCV004464811
dbSNP Id: rs377252928
ExAC: 4:24801456 G / C
gnomAD v2: 4-24801456-G-C
gnomAD v3: 4-24799834-G-C
gnomAD v4: 4-24799834-G-C
MyVariant Identifiers: chr4:g.24801456G>C (hg19) chr4:g.24799834G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799834G>C , CM000666.2:g.24799834G>C GRCh38
NC_000004.11:g.24801456G>C , CM000666.1:g.24801456G>C GRCh37
NC_000004.10:g.24410554G>C NCBI36
NG_012213.1:g.9372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.313G>C MANE Select ENSP00000371554.3:p.Glu105Gln
ENST00000382120.3:c.313G>C ENSP00000371554.3:p.Glu105Gln
NM_003102.2:c.313G>C NP_003093.2:p.Glu105Gln
XR_427488.1:n.503G>C
NM_003102.3:c.313G>C NP_003093.2:p.Glu105Gln
NM_003102.4:c.313G>C MANE Select NP_003093.2:p.Glu105Gln
Search 100 bp 5'
Search 100 bp 3'