Canonical Allele Identifier: CA318813278

Gene:

Linked Data

• dbSNP Id: rs1006125314
• MyVariant Identifiers: chr21:g.23631736T>C (hg19) ; chr21:g.22259416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259416T>C , CM000683.2:g.22259416T>C	GRCh38
NC_000021.8:g.23631736T>C , CM000683.1:g.23631736T>C	GRCh37
NC_000021.7:g.22553607T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46603T>C