Canonical Allele Identifier: CA2927639

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55959849G>A , CM000666.2:g.55959849G>A	GRCh38
NC_000004.11:g.56826015G>A , CM000666.1:g.56826015G>A	GRCh37
NC_000004.10:g.56520772G>A	NCBI36
NG_032806.1:g.16042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.699+83G>A MANE Select	NP_079285.2:n.699+83G>A
ENST00000257287.5:c.699+83G>A MANE Select	ENSP00000257287.3:n.699+83G>A
NM_025009.4:c.699+83G>A	NP_079285.2:n.699+83G>A
ENST00000257287.4:c.699+83G>A	ENSP00000257287.3:n.699+83G>A
ENST00000422247.6:c.*32G>A	ENSP00000412799.2:n.*32G>A
ENST00000515081.1:n.333+83G>A
ENST00000706800.1:n.3272G>A
XM_005265788.4:c.-369+83G>A	XP_005265845.1:n.-369+83G>A
XM_006714055.2:c.699+83G>A	XP_006714118.1:n.699+83G>A
XM_006714055.3:c.699+83G>A	XP_006714118.1:n.699+83G>A
XR_941064.1:n.472-7378C>T