Canonical Allele Identifier: CA269537848

Gene: CEP152

Linked Data

• dbSNP Id: rs986345687
• gnomAD v3: 15-48700653-A-G
• gnomAD v4: 15-48700653-A-G
• MyVariant Identifiers: chr15:g.48992850A>G (hg19) ; chr15:g.48700653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48700653A>G , CM000677.2:g.48700653A>G	GRCh38
NC_000015.9:g.48992850A>G , CM000677.1:g.48992850A>G	GRCh37
NC_000015.8:g.46780142A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_931770.1:n.5210+16365T>C
XR_931771.1:n.5210+16365T>C
XR_931772.1:n.5210+16365T>C
XR_931773.1:n.5210+16365T>C
XR_931775.1:n.5180+16365T>C
XR_001751153.2:n.5295+16365T>C
XR_931770.3:n.5196+16365T>C
XR_931775.3:n.5166+16365T>C