Canonical Allele Identifier: CA318813261

Gene:

Linked Data

• dbSNP Id: rs886589246
• MyVariant Identifiers: chr21:g.23631649A>T (hg19) ; chr21:g.22259329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259329A>T , CM000683.2:g.22259329A>T	GRCh38
NC_000021.8:g.23631649A>T , CM000683.1:g.23631649A>T	GRCh37
NC_000021.7:g.22553520A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46516A>T