Canonical Allele Identifier: CA931762335

Gene:

Linked Data

• dbSNP Id: rs2041646335
• gnomAD v3: 10-100101729-C-A
• gnomAD v4: 10-100101729-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100101729C>A , CM000672.2:g.100101729C>A	GRCh38
NC_000010.10:g.101861486C>A , CM000672.1:g.101861486C>A	GRCh37
NC_000010.9:g.101851476C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946245.1:n.185+5492C>A