Canonical Allele Identifier: CA9359036

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32879255A>C , CM000681.2:g.32879255A>C	GRCh38
NC_000019.9:g.33370161A>C , CM000681.1:g.33370161A>C	GRCh37
NC_000019.8:g.38062001A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.2259T>G MANE Select	ENSP00000306105.4:p.Val753=
ENST00000305768.9:c.2259T>G	ENSP00000306105.4:p.Val753=
ENST00000586984.6:c.*868T>G	ENSP00000465141.1:n.*868T>G
ENST00000591698.5:c.2115T>G	ENSP00000467544.1:n.2115T>G
NM_032816.4:c.2259T>G	NP_116205.3:p.Val753=
XM_005259344.2:c.2187T>G	XP_005259401.1:p.Val729=
XM_011527425.1:c.1518T>G	XP_011525727.1:p.Val506=
XR_935866.1:n.2305T>G
XM_005259344.3:c.2187T>G	XP_005259401.1:p.Val729=
XM_024451745.1:c.1518T>G	XP_024307513.1:p.Val506=
XR_935866.2:n.2305T>G
NM_032816.5:c.2259T>G MANE Select	NP_116205.3:p.Val753=