Canonical Allele Identifier: CA2385876352
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs546242121
gnomAD v3: 21-31659524-C-A
gnomAD v4: 21-31659524-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659524C>A , CM000683.2:g.31659524C>A GRCh38
NC_000021.8:g.33031837C>A , CM000683.1:g.33031837C>A GRCh37
NC_000021.7:g.31953708C>A NCBI36
NG_008689.1:g.4903C>A , LRG_652:g.4903C>A

Transcript Alleles

HGVS Amino-acid Change
XR_430363.3:n.32G>T
Search 100 bp 5'
Search 100 bp 3'