Canonical Allele Identifier: CA97581740

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56008612A>G , CM000666.2:g.56008612A>G	GRCh38
NC_000004.11:g.56874778A>G , CM000666.1:g.56874778A>G	GRCh37
NC_000004.10:g.56569535A>G	NCBI36
NG_032806.1:g.64805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706801.1:n.401+230A>G
ENST00000257287.5:c.2336+230A>G MANE Select	ENSP00000257287.3:n.2336+230A>G
ENST00000257287.4:c.2336+230A>G	ENSP00000257287.3:n.2336+230A>G
ENST00000506202.1:n.2286+230A>G
NM_025009.4:c.2336+230A>G	NP_079285.2:n.2336+230A>G
XM_005265788.2:c.1265+230A>G	XP_005265845.1:n.1265+230A>G
XM_006714055.2:c.2303+230A>G	XP_006714118.1:n.2303+230A>G
XM_011534412.1:c.806+230A>G	XP_011532714.1:n.806+230A>G
XM_005265788.4:c.1265+230A>G	XP_005265845.1:n.1265+230A>G
XM_006714055.3:c.2303+230A>G	XP_006714118.1:n.2303+230A>G
XM_011534412.2:c.806+230A>G	XP_011532714.1:n.806+230A>G
NM_025009.5:c.2336+230A>G MANE Select	NP_079285.2:n.2336+230A>G