Canonical Allele Identifier: CA318813275

Gene:

Linked Data

• dbSNP Id: rs576115208
• gnomAD v2: 21-23631731-C-A
• gnomAD v3: 21-22259411-C-A
• gnomAD v4: 21-22259411-C-A
• MyVariant Identifiers: chr21:g.23631731C>A (hg19) ; chr21:g.22259411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259411C>A , CM000683.2:g.22259411C>A	GRCh38
NC_000021.8:g.23631731C>A , CM000683.1:g.23631731C>A	GRCh37
NC_000021.7:g.22553602C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46598C>A