Canonical Allele Identifier: CA637698560

Gene:

Linked Data

• dbSNP Id: rs974325448
• gnomAD v2: 21-34262721-T-G
• MyVariant Identifiers: chr21:g.34262721T>G (hg19) ; chr21:g.32890413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890413T>G , CM000683.2:g.32890413T>G	GRCh38
NC_000021.8:g.34262721T>G , CM000683.1:g.34262721T>G	GRCh37
NC_000021.7:g.33184591T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937669.1:n.460-3165T>G
XR_937669.2:n.1038-3165T>G