Canonical Allele Identifier: CA2876239
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs762842034
ExAC: 4:24801368 G / C
gnomAD v2: 4-24801368-G-C
MyVariant Identifiers: chr4:g.24801368G>C (hg19) chr4:g.24799746G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799746G>C , CM000666.2:g.24799746G>C GRCh38
NC_000004.11:g.24801368G>C , CM000666.1:g.24801368G>C GRCh37
NC_000004.10:g.24410466G>C NCBI36
NG_012213.1:g.9284G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.225G>C MANE Select ENSP00000371554.3:p.Gln75His
ENST00000382120.3:c.225G>C ENSP00000371554.3:p.Gln75His
NM_003102.2:c.225G>C NP_003093.2:p.Gln75His
XR_427488.1:n.415G>C
NM_003102.3:c.225G>C NP_003093.2:p.Gln75His
NM_003102.4:c.225G>C MANE Select NP_003093.2:p.Gln75His
Search 100 bp 5'
Search 100 bp 3'