Canonical Allele Identifier: CA211542932

Gene: CEP55

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93517133A>G , CM000672.2:g.93517133A>G	GRCh38
NC_000010.10:g.95276890A>G , CM000672.1:g.95276890A>G	GRCh37
NC_000010.9:g.95266880A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018131.5:c.878A>G MANE Select	NP_060601.4:p.His293Arg
ENST00000371485.8:c.878A>G MANE Select	ENSP00000360540.3:p.His293Arg
NM_001127182.1:c.878A>G	NP_001120654.1:p.His293Arg
NM_001127182.2:c.878A>G	NP_001120654.2:p.His293Arg
NM_018131.4:c.878A>G	NP_060601.3:p.His293Arg
ENST00000371485.7:c.878A>G	ENSP00000360540.3:p.His293Arg
ENST00000445435.1:c.397A>G
XM_011539918.1:c.371A>G	XP_011538220.1:p.His124Arg
XM_011539919.1:c.371A>G	XP_011538221.1:p.His124Arg
XM_011539920.1:c.371A>G	XP_011538222.1:p.His124Arg
XM_011539920.2:c.371A>G	XP_011538222.1:p.His124Arg
XM_017016372.1:c.371A>G	XP_016871861.1:p.His124Arg
XM_017016373.1:c.371A>G	XP_016871862.1:p.His124Arg