Canonical Allele Identifier: CA405207456

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32879228C>A , CM000681.2:g.32879228C>A	GRCh38
NC_000019.9:g.33370134C>A , CM000681.1:g.33370134C>A	GRCh37
NC_000019.8:g.38061974C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032816.5:c.2286G>T MANE Select	NP_116205.3:p.Gln762His
ENST00000305768.10:c.2286G>T MANE Select	ENSP00000306105.4:p.Gln762His
NM_032816.4:c.2286G>T	NP_116205.3:p.Gln762His
ENST00000305768.9:c.2286G>T	ENSP00000306105.4:p.Gln762His
ENST00000586984.6:c.*895G>T	ENSP00000465141.1:n.*895G>T
ENST00000591698.5:c.2142G>T	ENSP00000467544.1:n.2142G>T
XM_005259344.2:c.2214G>T	XP_005259401.1:p.Gln738His
XM_005259344.3:c.2214G>T	XP_005259401.1:p.Gln738His
XM_011527425.1:c.1545G>T	XP_011525727.1:p.Gln515His
XM_024451745.1:c.1545G>T	XP_024307513.1:p.Gln515His
XR_935866.1:n.2332G>T
XR_935866.2:n.2332G>T