Canonical Allele Identifier: CA637245817
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1184004257
gnomAD v2: 21-33031613-G-A
gnomAD v3: 21-31659300-G-A
gnomAD v4: 21-31659300-G-A
MyVariant Identifiers: chr21:g.33031613G>A (hg19) chr21:g.31659300G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659300G>A , CM000683.2:g.31659300G>A GRCh38
NC_000021.8:g.33031613G>A , CM000683.1:g.33031613G>A GRCh37
NC_000021.7:g.31953484G>A NCBI36
NG_008689.1:g.4679G>A , LRG_652:g.4679G>A

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.124+97C>T
XR_937662.1:n.124+97C>T
XR_002958653.1:n.88+97C>T
XR_430363.3:n.159+97C>T
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