Canonical Allele Identifier: CA320076522

Gene:

Linked Data

• dbSNP Id: rs117528835
• gnomAD v3: 21-32890381-C-T
• gnomAD v4: 21-32890381-C-T
• MyVariant Identifiers: chr21:g.34262689C>T (hg19) ; chr21:g.32890381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890381C>T , CM000683.2:g.32890381C>T	GRCh38
NC_000021.8:g.34262689C>T , CM000683.1:g.34262689C>T	GRCh37
NC_000021.7:g.33184559C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937669.1:n.460-3197C>T
XR_937669.2:n.1038-3197C>T