Canonical Allele Identifier: CA2927720

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55965807G>C , CM000666.2:g.55965807G>C	GRCh38
NC_000004.11:g.56831973G>C , CM000666.1:g.56831973G>C	GRCh37
NC_000004.10:g.56526730G>C	NCBI36
NG_032806.1:g.22000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257287.5:c.992G>C MANE Select	ENSP00000257287.3:p.Arg331Thr
ENST00000257287.4:c.992G>C	ENSP00000257287.3:p.Arg331Thr
ENST00000506202.1:n.942G>C
ENST00000515081.1:n.626G>C
NM_025009.4:c.992G>C	NP_079285.2:p.Arg331Thr
XM_005265788.2:c.-76G>C	XP_005265845.1:n.-76G>C
XM_006714055.2:c.992G>C	XP_006714118.1:p.Arg331Thr
XR_941063.1:n.472-804C>G
XR_941064.1:n.471+4966C>G
XM_005265788.4:c.-76G>C	XP_005265845.1:n.-76G>C
XM_006714055.3:c.992G>C	XP_006714118.1:p.Arg331Thr
NM_025009.5:c.992G>C MANE Select	NP_079285.2:p.Arg331Thr