Canonical Allele Identifier: CA320076521
Gene:

Linked Data

dbSNP Id: rs2833991
gnomAD v2: 21-34262687-A-C
gnomAD v3: 21-32890379-A-C
gnomAD v4: 21-32890379-A-C
MyVariant Identifiers: chr21:g.34262687A>C (hg19) chr21:g.32890379A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32890379A>C , CM000683.2:g.32890379A>C GRCh38
NC_000021.8:g.34262687A>C , CM000683.1:g.34262687A>C GRCh37
NC_000021.7:g.33184557A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937669.1:n.460-3199A>C
XR_937669.2:n.1038-3199A>C
Search 100 bp 5'
Search 100 bp 3'