Canonical Allele Identifier: CA317929479
Gene:

Linked Data

dbSNP Id: rs889072149
gnomAD v3: 21-15440871-A-G
gnomAD v4: 21-15440871-A-G
MyVariant Identifiers: chr21:g.16813190A>G (hg19) chr21:g.15440871A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440871A>G , CM000683.2:g.15440871A>G GRCh38
NC_000021.8:g.16813190A>G , CM000683.1:g.16813190A>G GRCh37
NC_000021.7:g.15735061A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+355T>C
XR_001754965.2:n.468+3153T>C
XR_001754970.2:n.468+3153T>C
XR_001754971.2:n.468+3153T>C
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