Canonical Allele Identifier: CA15990637
Gene:

Linked Data

dbSNP Id: rs2823357
gnomAD v2: 21-16914905-G-A
gnomAD v3: 21-15542586-G-A
gnomAD v4: 21-15542586-G-A
MyVariant Identifiers: chr21:g.16914905G>A (hg19) chr21:g.15542586G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15542586G>A , CM000683.2:g.15542586G>A GRCh38
NC_000021.8:g.16914905G>A , CM000683.1:g.16914905G>A GRCh37
NC_000021.7:g.15836776G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754972.1:n.403-15863C>T
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