Canonical Allele Identifier: CA318813252

Gene:

Linked Data

• dbSNP Id: rs575609973
• gnomAD v3: 21-22259262-A-G
• gnomAD v4: 21-22259262-A-G
• MyVariant Identifiers: chr21:g.23631582A>G (hg19) ; chr21:g.22259262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259262A>G , CM000683.2:g.22259262A>G	GRCh38
NC_000021.8:g.23631582A>G , CM000683.1:g.23631582A>G	GRCh37
NC_000021.7:g.22553453A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46449A>G