Canonical Allele Identifier: CA320076528
Gene:

Linked Data

dbSNP Id: rs974325448
MyVariant Identifiers: chr21:g.32890413T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32890413T>C , CM000683.2:g.32890413T>C GRCh38
NC_000021.8:g.34262721T>C , CM000683.1:g.34262721T>C GRCh37
NC_000021.7:g.33184591T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937669.1:n.460-3165T>C
XR_937669.2:n.1038-3165T>C
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