Canonical Allele Identifier: CA1060301237
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs913629718
gnomAD v3: 4-24794982-G-T
gnomAD v4: 4-24794982-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24794982G>T , CM000666.2:g.24794982G>T GRCh38
NC_000004.11:g.24796604G>T , CM000666.1:g.24796604G>T GRCh37
NC_000004.10:g.24405702G>T NCBI36
NG_012213.1:g.4520G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000598411.1:c.-16-4524G>T ENSP00000472134.1:n.-16-4524G>T
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