Canonical Allele Identifier: CA356639167
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713787512
gnomAD v3: 4-24799858-A-T
gnomAD v4: 4-24799858-A-T
MyVariant Identifiers: chr4:g.24801480A>T (hg19) chr4:g.24799858A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799858A>T , CM000666.2:g.24799858A>T GRCh38
NC_000004.11:g.24801480A>T , CM000666.1:g.24801480A>T GRCh37
NC_000004.10:g.24410578A>T NCBI36
NG_012213.1:g.9396A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.337A>T MANE Select ENSP00000371554.3:p.Ile113Phe
ENST00000382120.3:c.337A>T ENSP00000371554.3:p.Ile113Phe
NM_003102.2:c.337A>T NP_003093.2:p.Ile113Phe
XR_427488.1:n.527A>T
NM_003102.3:c.337A>T NP_003093.2:p.Ile113Phe
NM_003102.4:c.337A>T MANE Select NP_003093.2:p.Ile113Phe
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