Canonical Allele Identifier: CA747277441
Gene:

Linked Data

dbSNP Id: rs1486197086
gnomAD v3: 21-15440945-C-A
gnomAD v4: 21-15440945-C-A
MyVariant Identifiers: chr21:g.16813264C>A (hg19) chr21:g.15440945C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440945C>A , CM000683.2:g.15440945C>A GRCh38
NC_000021.8:g.16813264C>A , CM000683.1:g.16813264C>A GRCh37
NC_000021.7:g.15735135C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_937593.1:n.552+281G>T
XR_001754965.2:n.468+3079G>T
XR_001754970.2:n.468+3079G>T
XR_001754971.2:n.468+3079G>T
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