Canonical Allele Identifier: CA319330246

Gene: SOD1-DT

Linked Data

• dbSNP Id: rs1013625521
• gnomAD v2: 21-33031645-T-G
• gnomAD v3: 21-31659332-T-G
• gnomAD v4: 21-31659332-T-G
• MyVariant Identifiers: chr21:g.33031645T>G (hg19) ; chr21:g.31659332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659332T>G , CM000683.2:g.31659332T>G	GRCh38
NC_000021.8:g.33031645T>G , CM000683.1:g.33031645T>G	GRCh37
NC_000021.7:g.31953516T>G	NCBI36
NG_008689.1:g.4711T>G , LRG_652:g.4711T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_430363.2:n.124+65A>C
XR_937662.1:n.124+65A>C
XR_002958653.1:n.88+65A>C
XR_430363.3:n.159+65A>C