Canonical Allele Identifier: CA747840186

Gene:

Linked Data

• dbSNP Id: rs1457552743
• MyVariant Identifiers: chr21:g.23631805T>G (hg19) ; chr21:g.22259485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259485T>G , CM000683.2:g.22259485T>G	GRCh38
NC_000021.8:g.23631805T>G , CM000683.1:g.23631805T>G	GRCh37
NC_000021.7:g.22553676T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46672T>G