Canonical Allele Identifier: CA356967508

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55954280A>C , CM000666.2:g.55954280A>C	GRCh38
NC_000004.11:g.56820446A>C , CM000666.1:g.56820446A>C	GRCh37
NC_000004.10:g.56515203A>C	NCBI36
NG_032806.1:g.10473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706800.1:n.542A>C
ENST00000257287.5:c.369A>C MANE Select	ENSP00000257287.3:p.Gln123His
ENST00000257287.4:c.369A>C	ENSP00000257287.3:p.Gln123His
ENST00000422247.6:c.369A>C	ENSP00000412799.2:p.Gln123His
ENST00000515081.1:n.3A>C
NM_025009.4:c.369A>C	NP_079285.2:p.Gln123His
XM_006714055.2:c.369A>C	XP_006714118.1:p.Gln123His
XR_941064.1:n.472-1809T>G
XM_005265788.4:c.-699A>C	XP_005265845.1:n.-699A>C
XM_006714055.3:c.369A>C	XP_006714118.1:p.Gln123His
NM_025009.5:c.369A>C MANE Select	NP_079285.2:p.Gln123His