Canonical Allele Identifier: CA749618730
Gene:

Linked Data

dbSNP Id: rs1356501472
MyVariant Identifiers: chr21:g.43168876G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168876G>A , CM000683.2:g.43168876G>A GRCh38
NG_009823.1:g.4846G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2161C>T