Canonical Allele Identifier: CA319330258

Gene: SOD1-DT

Linked Data

• dbSNP Id: rs969490549
• gnomAD v3: 21-31659351-C-T
• gnomAD v4: 21-31659351-C-T
• MyVariant Identifiers: chr21:g.33031664C>T (hg19) ; chr21:g.31659351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659351C>T , CM000683.2:g.31659351C>T	GRCh38
NC_000021.8:g.33031664C>T , CM000683.1:g.33031664C>T	GRCh37
NC_000021.7:g.31953535C>T	NCBI36
NG_008689.1:g.4730C>T , LRG_652:g.4730C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_430363.2:n.124+46G>A
XR_937662.1:n.124+46G>A
XR_002958653.1:n.88+46G>A
XR_430363.3:n.159+46G>A