Canonical Allele Identifier: CA512111354

Gene: SOD1-DT

Linked Data

• dbSNP Id: rs1479726965
• gnomAD v2: 21-33031806-C-G
• gnomAD v3: 21-31659493-C-G
• gnomAD v4: 21-31659493-C-G
• MyVariant Identifiers: chr21:g.33031806C>G (hg19) ; chr21:g.31659493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659493C>G , CM000683.2:g.31659493C>G	GRCh38
NC_000021.8:g.33031806C>G , CM000683.1:g.33031806C>G	GRCh37
NC_000021.7:g.31953677C>G	NCBI36
NG_008689.1:g.4872C>G , LRG_652:g.4872C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_430363.2:n.28G>C
XR_937662.1:n.28G>C
XR_430363.3:n.63G>C