Canonical Allele Identifier: CA319330316

Gene: SOD1-DT

Linked Data

• dbSNP Id: rs544559747
• gnomAD v2: 21-33031731-A-G
• gnomAD v3: 21-31659418-A-G
• gnomAD v4: 21-31659418-A-G
• MyVariant Identifiers: chr21:g.33031731A>G (hg19) ; chr21:g.31659418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659418A>G , CM000683.2:g.31659418A>G	GRCh38
NC_000021.8:g.33031731A>G , CM000683.1:g.33031731A>G	GRCh37
NC_000021.7:g.31953602A>G	NCBI36
NG_008689.1:g.4797A>G , LRG_652:g.4797A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_430363.2:n.103T>C
XR_937662.1:n.103T>C
XR_002958653.1:n.67T>C
XR_430363.3:n.138T>C