Canonical Allele Identifier: CA512111109
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs2049524528
gnomAD v4: 21-31659406-A-C
MyVariant Identifiers: chr21:g.33031719A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659406A>C , CM000683.2:g.31659406A>C GRCh38
NC_000021.8:g.33031719A>C , CM000683.1:g.33031719A>C GRCh37
NC_000021.7:g.31953590A>C NCBI36
NG_008689.1:g.4785A>C , LRG_652:g.4785A>C

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.115T>G
XR_937662.1:n.115T>G
XR_002958653.1:n.79T>G
XR_430363.3:n.150T>G
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