Canonical Allele Identifier: CA321167174
Gene:

Linked Data

dbSNP Id: rs993156477
MyVariant Identifiers: chr21:g.43168948A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168948A>G , CM000683.2:g.43168948A>G GRCh38
NG_009823.1:g.4918A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2089T>C