Canonical Allele Identifier: CA317929468
Gene:

Linked Data

dbSNP Id: rs940464348
MyVariant Identifiers: chr21:g.16813080T>C (hg19) chr21:g.15440761T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440761T>C , CM000683.2:g.15440761T>C GRCh38
NC_000021.8:g.16813080T>C , CM000683.1:g.16813080T>C GRCh37
NC_000021.7:g.15734951T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+465A>G
XR_001754965.2:n.468+3263A>G
XR_001754970.2:n.468+3263A>G
XR_001754971.2:n.468+3263A>G
Search 100 bp 5'
Search 100 bp 3'