Canonical Allele Identifier: CA2876268
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs753281885
ExAC: 4:24801526 C / T
gnomAD v2: 4-24801526-C-T
gnomAD v4: 4-24799904-C-T
MyVariant Identifiers: chr4:g.24801526C>T (hg19) chr4:g.24799904C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799904C>T , CM000666.2:g.24799904C>T GRCh38
NC_000004.11:g.24801526C>T , CM000666.1:g.24801526C>T GRCh37
NC_000004.10:g.24410624C>T NCBI36
NG_012213.1:g.9442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.383C>T MANE Select ENSP00000371554.3:p.Thr128Ile
ENST00000382120.3:c.383C>T ENSP00000371554.3:p.Thr128Ile
NM_003102.2:c.383C>T NP_003093.2:p.Thr128Ile
XR_427488.1:n.573C>T
NM_003102.3:c.383C>T NP_003093.2:p.Thr128Ile
NM_003102.4:c.383C>T MANE Select NP_003093.2:p.Thr128Ile
Search 100 bp 5'
Search 100 bp 3'