Canonical Allele Identifier: CA637245819
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1423724622
gnomAD v2: 21-33031658-T-C
gnomAD v3: 21-31659345-T-C
gnomAD v4: 21-31659345-T-C
MyVariant Identifiers: chr21:g.33031658T>C (hg19) chr21:g.31659345T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659345T>C , CM000683.2:g.31659345T>C GRCh38
NC_000021.8:g.33031658T>C , CM000683.1:g.33031658T>C GRCh37
NC_000021.7:g.31953529T>C NCBI36
NG_008689.1:g.4724T>C , LRG_652:g.4724T>C

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.124+52A>G
XR_937662.1:n.124+52A>G
XR_002958653.1:n.88+52A>G
XR_430363.3:n.159+52A>G
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