Canonical Allele Identifier: CA321167149

Gene:

Linked Data

• MyVariant Identifiers: chr21:g.43168902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168902G>C , CM000683.2:g.43168902G>C	GRCh38
NG_009823.1:g.4872G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2135C>G