Canonical Allele Identifier: CA320076513

Gene:

Linked Data

• dbSNP Id: rs111825002
• gnomAD v3: 21-32890301-T-C
• gnomAD v4: 21-32890301-T-C
• MyVariant Identifiers: chr21:g.34262609T>C (hg19) ; chr21:g.32890301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890301T>C , CM000683.2:g.32890301T>C	GRCh38
NC_000021.8:g.34262609T>C , CM000683.1:g.34262609T>C	GRCh37
NC_000021.7:g.33184479T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937669.1:n.460-3277T>C
XR_937669.2:n.1038-3277T>C