Canonical Allele Identifier: CA320076523

Gene:

Linked Data

• dbSNP Id: rs1047055649
• gnomAD v3: 21-32890382-G-A
• gnomAD v4: 21-32890382-G-A
• MyVariant Identifiers: chr21:g.34262690G>A (hg19) ; chr21:g.32890382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890382G>A , CM000683.2:g.32890382G>A	GRCh38
NC_000021.8:g.34262690G>A , CM000683.1:g.34262690G>A	GRCh37
NC_000021.7:g.33184560G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937669.1:n.460-3196G>A
XR_937669.2:n.1038-3196G>A