Canonical Allele Identifier: CA94297223
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs908712505
gnomAD v2: 4-24801357-G-C
gnomAD v4: 4-24799735-G-C
MyVariant Identifiers: chr4:g.24801357G>C (hg19) chr4:g.24799735G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799735G>C , CM000666.2:g.24799735G>C GRCh38
NC_000004.11:g.24801357G>C , CM000666.1:g.24801357G>C GRCh37
NC_000004.10:g.24410455G>C NCBI36
NG_012213.1:g.9273G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.214G>C MANE Select ENSP00000371554.3:p.Asp72His
ENST00000382120.3:c.214G>C ENSP00000371554.3:p.Asp72His
NM_003102.2:c.214G>C NP_003093.2:p.Asp72His
XR_427488.1:n.404G>C
NM_003102.3:c.214G>C NP_003093.2:p.Asp72His
NM_003102.4:c.214G>C MANE Select NP_003093.2:p.Asp72His
Search 100 bp 5'
Search 100 bp 3'