Canonical Allele Identifier: CA318813253

Gene:

Linked Data

• dbSNP Id: rs144054370
• gnomAD v2: 21-23631591-A-T
• gnomAD v3: 21-22259271-A-T
• gnomAD v4: 21-22259271-A-T
• MyVariant Identifiers: chr21:g.23631591A>T (hg19) ; chr21:g.22259271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259271A>T , CM000683.2:g.22259271A>T	GRCh38
NC_000021.8:g.23631591A>T , CM000683.1:g.23631591A>T	GRCh37
NC_000021.7:g.22553462A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754978.1:n.221+46458A>T