Canonical Allele Identifier: CA9359076

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32881830G>T , CM000681.2:g.32881830G>T	GRCh38
NC_000019.9:g.33372736G>T , CM000681.1:g.33372736G>T	GRCh37
NC_000019.8:g.38064576G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032816.5:c.2135+14C>A MANE Select	NP_116205.3:n.2135+14C>A
ENST00000305768.10:c.2135+14C>A MANE Select	ENSP00000306105.4:n.2135+14C>A
NM_032816.4:c.2135+14C>A	NP_116205.3:n.2135+14C>A
ENST00000305768.9:c.2135+14C>A	ENSP00000306105.4:n.2135+14C>A
ENST00000586984.6:c.*744+14C>A	ENSP00000465141.1:n.*744+14C>A
ENST00000591698.5:c.1991+14C>A	ENSP00000467544.1:n.1991+14C>A
XM_005259344.2:c.2063+14C>A	XP_005259401.1:n.2063+14C>A
XM_005259344.3:c.2063+14C>A	XP_005259401.1:n.2063+14C>A
XM_011527425.1:c.1394+14C>A	XP_011525727.1:n.1394+14C>A
XM_024451745.1:c.1394+14C>A	XP_024307513.1:n.1394+14C>A
XR_935866.1:n.2181+14C>A
XR_935866.2:n.2181+14C>A