Canonical Allele Identifier: CA242665984

Gene:

Linked Data

• dbSNP Id: rs954934395
• gnomAD v3: 12-102501437-G-A
• gnomAD v4: 12-102501437-G-A
• MyVariant Identifiers: chr12:g.102895215G>A (hg19) ; chr12:g.102501437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501437G>A , CM000674.2:g.102501437G>A	GRCh38
NC_000012.11:g.102895215G>A , CM000674.1:g.102895215G>A	GRCh37
NC_000012.10:g.101419345G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001749289.1:n.1952+17549G>A