Canonical Allele Identifier: CA747840128

Gene:

Linked Data

• dbSNP Id: rs1226111899
• gnomAD v3: 21-22259377-T-A
• gnomAD v4: 21-22259377-T-A
• MyVariant Identifiers: chr21:g.23631697T>A (hg19) ; chr21:g.22259377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259377T>A , CM000683.2:g.22259377T>A	GRCh38
NC_000021.8:g.23631697T>A , CM000683.1:g.23631697T>A	GRCh37
NC_000021.7:g.22553568T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46564T>A