Canonical Allele Identifier: CA356640453
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1452920720
gnomAD v4: 4-24800175-G-C
MyVariant Identifiers: chr4:g.24801797G>C (hg19) chr4:g.24800175G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800175G>C , CM000666.2:g.24800175G>C GRCh38
NC_000004.11:g.24801797G>C , CM000666.1:g.24801797G>C GRCh37
NC_000004.10:g.24410895G>C NCBI36
NG_012213.1:g.9713G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.654G>C MANE Select ENSP00000371554.3:p.Trp218Cys
ENST00000382120.3:c.654G>C ENSP00000371554.3:p.Trp218Cys
NM_003102.2:c.654G>C NP_003093.2:p.Trp218Cys
XR_427488.1:n.844G>C
NM_003102.3:c.654G>C NP_003093.2:p.Trp218Cys
NM_003102.4:c.654G>C MANE Select NP_003093.2:p.Trp218Cys
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Search 100 bp 3'