Canonical Allele Identifier: CA317929480
Gene:

Linked Data

dbSNP Id: rs570824997
MyVariant Identifiers: chr21:g.16813205G>T (hg19) chr21:g.15440886G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440886G>T , CM000683.2:g.15440886G>T GRCh38
NC_000021.8:g.16813205G>T , CM000683.1:g.16813205G>T GRCh37
NC_000021.7:g.15735076G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+340C>A
XR_001754965.2:n.468+3138C>A
XR_001754970.2:n.468+3138C>A
XR_001754971.2:n.468+3138C>A
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