Canonical Allele Identifier: CA356639984
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2228951
ClinVar RCV Id: RCV004096923
MyVariant Identifiers: chr4:g.24801679T>G (hg19) chr4:g.24800057T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800057T>G , CM000666.2:g.24800057T>G GRCh38
NC_000004.11:g.24801679T>G , CM000666.1:g.24801679T>G GRCh37
NC_000004.10:g.24410777T>G NCBI36
NG_012213.1:g.9595T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.536T>G MANE Select ENSP00000371554.3:p.Val179Gly
ENST00000382120.3:c.536T>G ENSP00000371554.3:p.Val179Gly
NM_003102.2:c.536T>G NP_003093.2:p.Val179Gly
XR_427488.1:n.726T>G
NM_003102.3:c.536T>G NP_003093.2:p.Val179Gly
NM_003102.4:c.536T>G MANE Select NP_003093.2:p.Val179Gly
Search 100 bp 5'
Search 100 bp 3'