Canonical Allele Identifier: CA319530346
Gene:

Linked Data

dbSNP Id: rs12483240
gnomAD v2: 21-26829777-C-T
gnomAD v3: 21-25457465-C-T
gnomAD v4: 21-25457465-C-T
MyVariant Identifiers: chr21:g.26829777C>T (hg19) chr21:g.25457465C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25457465C>T , CM000683.2:g.25457465C>T GRCh38
NC_000021.8:g.26829777C>T , CM000683.1:g.26829777C>T GRCh37
NC_000021.7:g.25751648C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937615.1:n.78-4039G>A
Search 100 bp 5'
Search 100 bp 3'