Canonical Allele Identifier: CA317929488

Gene:

Linked Data

• dbSNP Id: rs112024971
• gnomAD v2: 21-16813256-C-T
• gnomAD v3: 21-15440937-C-T
• gnomAD v4: 21-15440937-C-T
• MyVariant Identifiers: chr21:g.16813256C>T (hg19) ; chr21:g.15440937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.15440937C>T , CM000683.2:g.15440937C>T	GRCh38
NC_000021.8:g.16813256C>T , CM000683.1:g.16813256C>T	GRCh37
NC_000021.7:g.15735127C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937593.1:n.552+289G>A
XR_001754965.2:n.468+3087G>A
XR_001754970.2:n.468+3087G>A
XR_001754971.2:n.468+3087G>A