Canonical Allele Identifier: CA637042586
Gene:

Linked Data

dbSNP Id: rs1454049065
gnomAD v2: 21-16813175-A-G
gnomAD v3: 21-15440856-A-G
gnomAD v4: 21-15440856-A-G
MyVariant Identifiers: chr21:g.16813175A>G (hg19) chr21:g.15440856A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440856A>G , CM000683.2:g.15440856A>G GRCh38
NC_000021.8:g.16813175A>G , CM000683.1:g.16813175A>G GRCh37
NC_000021.7:g.15735046A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937593.1:n.552+370T>C
XR_001754965.2:n.468+3168T>C
XR_001754970.2:n.468+3168T>C
XR_001754971.2:n.468+3168T>C
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