Canonical Allele Identifier: CA512111228
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs2049525081
gnomAD v3: 21-31659449-C-G
gnomAD v4: 21-31659449-C-G
MyVariant Identifiers: chr21:g.33031762C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659449C>G , CM000683.2:g.31659449C>G GRCh38
NC_000021.8:g.33031762C>G , CM000683.1:g.33031762C>G GRCh37
NC_000021.7:g.31953633C>G NCBI36
NG_008689.1:g.4828C>G , LRG_652:g.4828C>G

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.72G>C
XR_937662.1:n.72G>C
XR_002958653.1:n.36G>C
XR_430363.3:n.107G>C
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