Canonical Allele Identifier: CA9359433

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32926973A>C , CM000681.2:g.32926973A>C	GRCh38
NC_000019.9:g.33417879A>C , CM000681.1:g.33417879A>C	GRCh37
NC_000019.8:g.38109719A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.1041T>G MANE Select	ENSP00000306105.4:p.Ile347Met
ENST00000305768.9:c.1041T>G	ENSP00000306105.4:p.Ile347Met
ENST00000586984.6:c.1041T>G	ENSP00000465141.1:p.Ile347Met
ENST00000591698.5:c.897T>G	ENSP00000467544.1:n.897T>G
NM_032816.4:c.1041T>G	NP_116205.3:p.Ile347Met
XM_005259344.2:c.1041T>G	XP_005259401.1:p.Ile347Met
XM_005259346.2:c.1041T>G	XP_005259403.1:p.Ile347Met
XM_011527425.1:c.300T>G	XP_011525727.1:p.Ile100Met
XR_935866.1:n.1191T>G
XM_005259344.3:c.1041T>G	XP_005259401.1:p.Ile347Met
XM_017027398.1:c.1041T>G	XP_016882887.1:p.Ile347Met
XM_024451745.1:c.300T>G	XP_024307513.1:p.Ile100Met
XR_002958372.1:n.1191T>G
XR_935866.2:n.1191T>G
NM_032816.5:c.1041T>G MANE Select	NP_116205.3:p.Ile347Met