Canonical Allele Identifier: CA522076182

Gene:

Linked Data

• dbSNP Id: rs137880210
• gnomAD v2: 1-34989156-T-A
• MyVariant Identifiers: chr1:g.34989156T>A (hg19) ; chr1:g.34523555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523555T>A , CM000663.2:g.34523555T>A	GRCh38
NC_000001.10:g.34989156T>A , CM000663.1:g.34989156T>A	GRCh37
NC_000001.9:g.34761743T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947171.1:n.1073+24024A>T
XR_001737964.1:n.991+24024A>T