Canonical Allele Identifier: CA320076529

Gene:

Linked Data

• dbSNP Id: rs918386083
• MyVariant Identifiers: chr21:g.34262735G>T (hg19) ; chr21:g.32890427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890427G>T , CM000683.2:g.32890427G>T	GRCh38
NC_000021.8:g.34262735G>T , CM000683.1:g.34262735G>T	GRCh37
NC_000021.7:g.33184605G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937669.1:n.460-3151G>T
XR_937669.2:n.1038-3151G>T