Canonical Allele Identifier: CA2876300
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2357418
ClinVar RCV Id: RCV004191087
dbSNP Id: rs564062771
ExAC: 4:24801709 G / T
gnomAD v2: 4-24801709-G-T
gnomAD v3: 4-24800087-G-T
gnomAD v4: 4-24800087-G-T
MyVariant Identifiers: chr4:g.24801709G>T (hg19) chr4:g.24800087G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800087G>T , CM000666.2:g.24800087G>T GRCh38
NC_000004.11:g.24801709G>T , CM000666.1:g.24801709G>T GRCh37
NC_000004.10:g.24410807G>T NCBI36
NG_012213.1:g.9625G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.566G>T MANE Select ENSP00000371554.3:p.Arg189Leu
ENST00000382120.3:c.566G>T ENSP00000371554.3:p.Arg189Leu
NM_003102.2:c.566G>T NP_003093.2:p.Arg189Leu
XR_427488.1:n.756G>T
NM_003102.3:c.566G>T NP_003093.2:p.Arg189Leu
NM_003102.4:c.566G>T MANE Select NP_003093.2:p.Arg189Leu
Search 100 bp 5'
Search 100 bp 3'