Canonical Allele Identifier: CA881573222

Gene: CEP89

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32962753T>A , CM000681.2:g.32962753T>A	GRCh38
NC_000019.9:g.33453659T>A , CM000681.1:g.33453659T>A	GRCh37
NC_000019.8:g.38145499T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.147-2695A>T MANE Select	ENSP00000306105.4:n.147-2695A>T
ENST00000305768.9:c.147-2695A>T	ENSP00000306105.4:n.147-2695A>T
ENST00000586984.6:c.147-2695A>T	ENSP00000465141.1:n.147-2695A>T
ENST00000590597.6:c.147-2695A>T	ENSP00000466442.1:n.147-2695A>T
ENST00000593276.2:c.61-2695A>T
NM_032816.4:c.147-2695A>T	NP_116205.3:n.147-2695A>T
XM_005259344.2:c.147-2695A>T	XP_005259401.1:n.147-2695A>T
XM_005259346.2:c.147-2695A>T	XP_005259403.1:n.147-2695A>T
XR_935866.1:n.297-2695A>T
XM_005259344.3:c.147-2695A>T	XP_005259401.1:n.147-2695A>T
XM_017027398.1:c.147-2695A>T	XP_016882887.1:n.147-2695A>T
XM_024451745.1:c.-703-2695A>T	XP_024307513.1:n.-703-2695A>T
XR_002958372.1:n.297-2695A>T
XR_935866.2:n.297-2695A>T
NM_032816.5:c.147-2695A>T MANE Select	NP_116205.3:n.147-2695A>T