Canonical Allele Identifier: CA959071005

Gene:

Linked Data

• dbSNP Id: rs1878599836
• gnomAD v3: 13-94853028-G-A
• gnomAD v4: 13-94853028-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853028G>A , CM000675.2:g.94853028G>A	GRCh38
NC_000013.10:g.95505282G>A , CM000675.1:g.95505282G>A	GRCh37
NC_000013.9:g.94303283G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110754.1:n.257-52436G>A