Canonical Allele Identifier: CA702501681

Gene:

Linked Data

• dbSNP Id: rs1399599810
• gnomAD v3: 13-94853103-G-A
• gnomAD v4: 13-94853103-G-A
• MyVariant Identifiers: chr13:g.95505357G>A (hg19) ; chr13:g.94853103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853103G>A , CM000675.2:g.94853103G>A	GRCh38
NC_000013.10:g.95505357G>A , CM000675.1:g.95505357G>A	GRCh37
NC_000013.9:g.94303358G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110754.1:n.257-52361G>A