Canonical Allele Identifier: CA96961795

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55984982G>C , CM000666.2:g.55984982G>C	GRCh38
NC_000004.11:g.56851148G>C , CM000666.1:g.56851148G>C	GRCh37
NC_000004.10:g.56545905G>C	NCBI36
NG_032806.1:g.41175G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.1780-299G>C MANE Select	NP_079285.2:n.1780-299G>C
ENST00000257287.5:c.1780-299G>C MANE Select	ENSP00000257287.3:n.1780-299G>C
NM_025009.4:c.1780-299G>C	NP_079285.2:n.1780-299G>C
ENST00000257287.4:c.1780-299G>C	ENSP00000257287.3:n.1780-299G>C
ENST00000506202.1:n.1730-299G>C
XM_005265788.2:c.709-299G>C	XP_005265845.1:n.709-299G>C
XM_005265788.4:c.709-299G>C	XP_005265845.1:n.709-299G>C
XM_006714055.2:c.1747-299G>C	XP_006714118.1:n.1747-299G>C
XM_006714055.3:c.1747-299G>C	XP_006714118.1:n.1747-299G>C
XM_011534412.1:c.250-299G>C	XP_011532714.1:n.250-299G>C
XM_011534412.2:c.250-299G>C	XP_011532714.1:n.250-299G>C