Canonical Allele Identifier: CA321167215
Gene:

Linked Data

dbSNP Id: rs954405425
MyVariant Identifiers: chr21:g.43168984C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168984C>T , CM000683.2:g.43168984C>T GRCh38
NG_009823.1:g.4954C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2053G>A