Canonical Allele Identifier: CA317929476
Gene:

Linked Data

dbSNP Id: rs996113277
MyVariant Identifiers: chr21:g.16813149C>A (hg19) chr21:g.15440830C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440830C>A , CM000683.2:g.15440830C>A GRCh38
NC_000021.8:g.16813149C>A , CM000683.1:g.16813149C>A GRCh37
NC_000021.7:g.15735020C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+396G>T
XR_001754965.2:n.468+3194G>T
XR_001754970.2:n.468+3194G>T
XR_001754971.2:n.468+3194G>T
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