Canonical Allele Identifier: CA2876224
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2485365
ClinVar RCV Id: RCV004274974
dbSNP Id: rs751324550
ExAC: 4:24801301 G / C
gnomAD v2: 4-24801301-G-C
gnomAD v4: 4-24799679-G-C
MyVariant Identifiers: chr4:g.24801301G>C (hg19) chr4:g.24799679G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799679G>C , CM000666.2:g.24799679G>C GRCh38
NC_000004.11:g.24801301G>C , CM000666.1:g.24801301G>C GRCh37
NC_000004.10:g.24410399G>C NCBI36
NG_012213.1:g.9217G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.158G>C MANE Select ENSP00000371554.3:p.Arg53Pro
ENST00000382120.3:c.158G>C ENSP00000371554.3:p.Arg53Pro
ENST00000598411.1:c.158G>C ENSP00000472134.1:p.Arg53Pro
NM_003102.2:c.158G>C NP_003093.2:p.Arg53Pro
XR_427488.1:n.348G>C
NM_003102.3:c.158G>C NP_003093.2:p.Arg53Pro
NM_003102.4:c.158G>C MANE Select NP_003093.2:p.Arg53Pro
Search 100 bp 5'
Search 100 bp 3'