Canonical Allele Identifier: CA356639149
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1173988453
gnomAD v2: 4-24801474-C-T
gnomAD v4: 4-24799852-C-T
MyVariant Identifiers: chr4:g.24801474C>T (hg19) chr4:g.24799852C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799852C>T , CM000666.2:g.24799852C>T GRCh38
NC_000004.11:g.24801474C>T , CM000666.1:g.24801474C>T GRCh37
NC_000004.10:g.24410572C>T NCBI36
NG_012213.1:g.9390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.331C>T MANE Select ENSP00000371554.3:p.Arg111Cys
ENST00000382120.3:c.331C>T ENSP00000371554.3:p.Arg111Cys
NM_003102.2:c.331C>T NP_003093.2:p.Arg111Cys
XR_427488.1:n.521C>T
NM_003102.3:c.331C>T NP_003093.2:p.Arg111Cys
NM_003102.4:c.331C>T MANE Select NP_003093.2:p.Arg111Cys
Search 100 bp 5'
Search 100 bp 3'