Canonical Allele Identifier: CA2927722

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55965809C>T , CM000666.2:g.55965809C>T	GRCh38
NC_000004.11:g.56831975C>T , CM000666.1:g.56831975C>T	GRCh37
NC_000004.10:g.56526732C>T	NCBI36
NG_032806.1:g.22002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257287.5:c.994C>T MANE Select	ENSP00000257287.3:p.His332Tyr
ENST00000257287.4:c.994C>T	ENSP00000257287.3:p.His332Tyr
ENST00000506202.1:n.944C>T
ENST00000515081.1:n.628C>T
NM_025009.4:c.994C>T	NP_079285.2:p.His332Tyr
XM_005265788.2:c.-74C>T	XP_005265845.1:n.-74C>T
XM_006714055.2:c.994C>T	XP_006714118.1:p.His332Tyr
XR_941063.1:n.472-806G>A
XR_941064.1:n.471+4964G>A
XM_005265788.4:c.-74C>T	XP_005265845.1:n.-74C>T
XM_006714055.3:c.994C>T	XP_006714118.1:p.His332Tyr
NM_025009.5:c.994C>T MANE Select	NP_079285.2:p.His332Tyr