Canonical Allele Identifier: CA713389701

Gene: CEP152

Linked Data

• dbSNP Id: rs2725544
• gnomAD v3: 15-48700700-C-T
• gnomAD v4: 15-48700700-C-T
• MyVariant Identifiers: chr15:g.48992897C>T (hg19) ; chr15:g.48700700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48700700C>T , CM000677.2:g.48700700C>T	GRCh38
NC_000015.9:g.48992897C>T , CM000677.1:g.48992897C>T	GRCh37
NC_000015.8:g.46780189C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931770.1:n.5210+16318G>A
XR_931771.1:n.5210+16318G>A
XR_931772.1:n.5210+16318G>A
XR_931773.1:n.5210+16318G>A
XR_931775.1:n.5180+16318G>A
XR_001751153.2:n.5295+16318G>A
XR_931770.3:n.5196+16318G>A
XR_931775.3:n.5166+16318G>A