Canonical Allele Identifier: CA2876246
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs766409170
ExAC: 4:24801408 C / T
gnomAD v2: 4-24801408-C-T
gnomAD v4: 4-24799786-C-T
COSMIC: COSM3661038
MyVariant Identifiers: chr4:g.24801408C>T (hg19) chr4:g.24799786C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799786C>T , CM000666.2:g.24799786C>T GRCh38
NC_000004.11:g.24801408C>T , CM000666.1:g.24801408C>T GRCh37
NC_000004.10:g.24410506C>T NCBI36
NG_012213.1:g.9324C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.265C>T MANE Select ENSP00000371554.3:p.Pro89Ser
ENST00000382120.3:c.265C>T ENSP00000371554.3:p.Pro89Ser
NM_003102.2:c.265C>T NP_003093.2:p.Pro89Ser
XR_427488.1:n.455C>T
NM_003102.3:c.265C>T NP_003093.2:p.Pro89Ser
NM_003102.4:c.265C>T MANE Select NP_003093.2:p.Pro89Ser
Search 100 bp 5'
Search 100 bp 3'