Canonical Allele Identifier: CA748617924
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1458453635
gnomAD v3: 21-31659280-A-G
gnomAD v4: 21-31659280-A-G
MyVariant Identifiers: chr21:g.33031593A>G (hg19) chr21:g.31659280A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659280A>G , CM000683.2:g.31659280A>G GRCh38
NC_000021.8:g.33031593A>G , CM000683.1:g.33031593A>G GRCh37
NC_000021.7:g.31953464A>G NCBI36
NG_008689.1:g.4659A>G , LRG_652:g.4659A>G

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.124+117T>C
XR_937662.1:n.124+117T>C
XR_002958653.1:n.88+117T>C
XR_430363.3:n.159+117T>C
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