Canonical Allele Identifier: CA693572555

Gene:

Linked Data

• dbSNP Id: rs1269999016
• gnomAD v3: 12-93293239-C-A
• gnomAD v4: 12-93293239-C-A
• MyVariant Identifiers: chr12:g.93687015C>A (hg19) ; chr12:g.93293239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293239C>A , CM000674.2:g.93293239C>A	GRCh38
NC_000012.11:g.93687015C>A , CM000674.1:g.93687015C>A	GRCh37
NC_000012.10:g.92211146C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34788G>T