Canonical Allele Identifier: CA9359029

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32879213G>A , CM000681.2:g.32879213G>A	GRCh38
NC_000019.9:g.33370119G>A , CM000681.1:g.33370119G>A	GRCh37
NC_000019.8:g.38061959G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.2301C>T MANE Select	ENSP00000306105.4:p.Asp767=
ENST00000305768.9:c.2301C>T	ENSP00000306105.4:p.Asp767=
ENST00000586984.6:c.*910C>T	ENSP00000465141.1:n.*910C>T
ENST00000591698.5:c.2157C>T	ENSP00000467544.1:n.2157C>T
NM_032816.4:c.2301C>T	NP_116205.3:p.Asp767=
XM_005259344.2:c.2229C>T	XP_005259401.1:p.Asp743=
XM_011527425.1:c.1560C>T	XP_011525727.1:p.Asp520=
XR_935866.1:n.2347C>T
XM_005259344.3:c.2229C>T	XP_005259401.1:p.Asp743=
XM_024451745.1:c.1560C>T	XP_024307513.1:p.Asp520=
XR_935866.2:n.2347C>T
NM_032816.5:c.2301C>T MANE Select	NP_116205.3:p.Asp767=