Canonical Allele Identifier: CA963163173

Gene:

Linked Data

• dbSNP Id: rs2034712324
• gnomAD v3: 14-52417547-T-A
• gnomAD v4: 14-52417547-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417547T>A , CM000676.2:g.52417547T>A	GRCh38
NC_000014.8:g.52884265T>A , CM000676.1:g.52884265T>A	GRCh37
NC_000014.7:g.51954015T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3156A>T