Canonical Allele Identifier: CA94296694
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs142690089
gnomAD v2: 4-24796690-G-A
gnomAD v3: 4-24795068-G-A
gnomAD v4: 4-24795068-G-A
MyVariant Identifiers: chr4:g.24796690G>A (hg19) chr4:g.24795068G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24795068G>A , CM000666.2:g.24795068G>A GRCh38
NC_000004.11:g.24796690G>A , CM000666.1:g.24796690G>A GRCh37
NC_000004.10:g.24405788G>A NCBI36
NG_012213.1:g.4606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000598411.1:c.-16-4438G>A ENSP00000472134.1:n.-16-4438G>A
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