Canonical Allele Identifier: CA152294

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55981275G>A , CM000666.2:g.55981275G>A	GRCh38
NC_000004.11:g.56847441G>A , CM000666.1:g.56847441G>A	GRCh37
NC_000004.10:g.56542198G>A	NCBI36
NG_032806.1:g.37468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257287.5:c.1675G>A MANE Select	ENSP00000257287.3:p.Ala559Thr
ENST00000257287.4:c.1675G>A	ENSP00000257287.3:p.Ala559Thr
ENST00000506202.1:n.1625G>A
NM_025009.4:c.1675G>A	NP_079285.2:p.Ala559Thr
XM_005265788.2:c.604G>A	XP_005265845.1:p.Ala202Thr
XM_006714055.2:c.1642G>A	XP_006714118.1:p.Ala548Thr
XM_011534412.1:c.145G>A	XP_011532714.1:p.Ala49Thr
XM_005265788.4:c.604G>A	XP_005265845.1:p.Ala202Thr
XM_006714055.3:c.1642G>A	XP_006714118.1:p.Ala548Thr
XM_011534412.2:c.145G>A	XP_011532714.1:p.Ala49Thr
NM_025009.5:c.1675G>A MANE Select	NP_079285.2:p.Ala559Thr