Canonical Allele Identifier: CA2573138314

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55969047G>T , CM000666.2:g.55969047G>T	GRCh38
NC_000004.11:g.56835213G>T , CM000666.1:g.56835213G>T	GRCh37
NC_000004.10:g.56529970G>T	NCBI36
NG_032806.1:g.25240G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.1045-16G>T MANE Select	NP_079285.2:n.1045-16G>T
ENST00000257287.5:c.1045-16G>T MANE Select	ENSP00000257287.3:n.1045-16G>T
NM_025009.4:c.1045-16G>T	NP_079285.2:n.1045-16G>T
ENST00000257287.4:c.1045-16G>T	ENSP00000257287.3:n.1045-16G>T
ENST00000506202.1:n.995-16G>T
XM_005265788.2:c.-23-20G>T	XP_005265845.1:n.-23-20G>T
XM_005265788.4:c.-23-20G>T	XP_005265845.1:n.-23-20G>T
XM_006714055.2:c.1045-49G>T	XP_006714118.1:n.1045-49G>T
XM_006714055.3:c.1045-49G>T	XP_006714118.1:n.1045-49G>T
XR_941063.1:n.471+1726C>A
XR_941064.1:n.471+1726C>A