Canonical Allele Identifier: CA748774661

Gene:

Linked Data

• dbSNP Id: rs1253084096
• MyVariant Identifiers: chr21:g.34262649A>G (hg19) ; chr21:g.32890341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890341A>G , CM000683.2:g.32890341A>G	GRCh38
NC_000021.8:g.34262649A>G , CM000683.1:g.34262649A>G	GRCh37
NC_000021.7:g.33184519A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937669.1:n.460-3237A>G
XR_937669.2:n.1038-3237A>G