Canonical Allele Identifier: CA318813276

Gene:

Linked Data

• dbSNP Id: rs954418021
• MyVariant Identifiers: chr21:g.23631733A>G (hg19) ; chr21:g.22259413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259413A>G , CM000683.2:g.22259413A>G	GRCh38
NC_000021.8:g.23631733A>G , CM000683.1:g.23631733A>G	GRCh37
NC_000021.7:g.22553604A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46600A>G