Canonical Allele Identifier: CA2927532

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55954289T>G , CM000666.2:g.55954289T>G	GRCh38
NC_000004.11:g.56820455T>G , CM000666.1:g.56820455T>G	GRCh37
NC_000004.10:g.56515212T>G	NCBI36
NG_032806.1:g.10482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706800.1:n.551T>G
ENST00000257287.5:c.378T>G MANE Select	ENSP00000257287.3:p.His126Gln
ENST00000257287.4:c.378T>G	ENSP00000257287.3:p.His126Gln
ENST00000422247.6:c.378T>G	ENSP00000412799.2:p.His126Gln
ENST00000515081.1:n.12T>G
NM_025009.4:c.378T>G	NP_079285.2:p.His126Gln
XM_006714055.2:c.378T>G	XP_006714118.1:p.His126Gln
XR_941064.1:n.472-1818A>C
XM_005265788.4:c.-690T>G	XP_005265845.1:n.-690T>G
XM_006714055.3:c.378T>G	XP_006714118.1:p.His126Gln
NM_025009.5:c.378T>G MANE Select	NP_079285.2:p.His126Gln