Canonical Allele Identifier: CA2876241
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs774191949
ExAC: 4:24801379 C / T
gnomAD v2: 4-24801379-C-T
gnomAD v4: 4-24799757-C-T
MyVariant Identifiers: chr4:g.24801379C>T (hg19) chr4:g.24799757C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799757C>T , CM000666.2:g.24799757C>T GRCh38
NC_000004.11:g.24801379C>T , CM000666.1:g.24801379C>T GRCh37
NC_000004.10:g.24410477C>T NCBI36
NG_012213.1:g.9295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.236C>T MANE Select ENSP00000371554.3:p.Thr79Ile
ENST00000382120.3:c.236C>T ENSP00000371554.3:p.Thr79Ile
NM_003102.2:c.236C>T NP_003093.2:p.Thr79Ile
XR_427488.1:n.426C>T
NM_003102.3:c.236C>T NP_003093.2:p.Thr79Ile
NM_003102.4:c.236C>T MANE Select NP_003093.2:p.Thr79Ile
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