Canonical Allele Identifier: CA356638498
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1462443703
gnomAD v2: 4-24801318-C-T
gnomAD v4: 4-24799696-C-T
MyVariant Identifiers: chr4:g.24801318C>T (hg19) chr4:g.24799696C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799696C>T , CM000666.2:g.24799696C>T GRCh38
NC_000004.11:g.24801318C>T , CM000666.1:g.24801318C>T GRCh37
NC_000004.10:g.24410416C>T NCBI36
NG_012213.1:g.9234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.175C>T MANE Select ENSP00000371554.3:p.Leu59Phe
ENST00000382120.3:c.175C>T ENSP00000371554.3:p.Leu59Phe
NM_003102.2:c.175C>T NP_003093.2:p.Leu59Phe
XR_427488.1:n.365C>T
NM_003102.3:c.175C>T NP_003093.2:p.Leu59Phe
NM_003102.4:c.175C>T MANE Select NP_003093.2:p.Leu59Phe
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