Canonical Allele Identifier: CA319330274
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs574224873
gnomAD v2: 21-33031684-A-C
gnomAD v3: 21-31659371-A-C
gnomAD v4: 21-31659371-A-C
MyVariant Identifiers: chr21:g.33031684A>C (hg19) chr21:g.31659371A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659371A>C , CM000683.2:g.31659371A>C GRCh38
NC_000021.8:g.33031684A>C , CM000683.1:g.33031684A>C GRCh37
NC_000021.7:g.31953555A>C NCBI36
NG_008689.1:g.4750A>C , LRG_652:g.4750A>C

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.124+26T>G
XR_937662.1:n.124+26T>G
XR_002958653.1:n.88+26T>G
XR_430363.3:n.159+26T>G
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