Canonical Allele Identifier: CA2332466824

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32887848A>G , CM000681.2:g.32887848A>G	GRCh38
NC_000019.9:g.33378754A>G , CM000681.1:g.33378754A>G	GRCh37
NC_000019.8:g.38070594A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032816.5:c.1876-7T>C MANE Select	NP_116205.3:n.1876-7T>C
ENST00000305768.10:c.1876-7T>C MANE Select	ENSP00000306105.4:n.1876-7T>C
NM_032816.4:c.1876-7T>C	NP_116205.3:n.1876-7T>C
ENST00000305768.9:c.1876-7T>C	ENSP00000306105.4:n.1876-7T>C
ENST00000586984.6:c.*485-7T>C	ENSP00000465141.1:n.*485-7T>C
ENST00000591698.5:c.1732-7T>C	ENSP00000467544.1:n.1732-7T>C
XM_005259344.2:c.1804-7T>C	XP_005259401.1:n.1804-7T>C
XM_005259344.3:c.1804-7T>C	XP_005259401.1:n.1804-7T>C
XM_011527425.1:c.1135-7T>C	XP_011525727.1:n.1135-7T>C
XM_024451745.1:c.1135-7T>C	XP_024307513.1:n.1135-7T>C
XR_002958372.1:n.2058-7T>C
XR_935866.1:n.1922-7T>C
XR_935866.2:n.1922-7T>C