Canonical Allele Identifier: CA96961197

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55981575G>T , CM000666.2:g.55981575G>T	GRCh38
NC_000004.11:g.56847741G>T , CM000666.1:g.56847741G>T	GRCh37
NC_000004.10:g.56542498G>T	NCBI36
NG_032806.1:g.37768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257287.5:c.1779+196G>T MANE Select	ENSP00000257287.3:n.1779+196G>T
ENST00000257287.4:c.1779+196G>T	ENSP00000257287.3:n.1779+196G>T
ENST00000506202.1:n.1729+196G>T
NM_025009.4:c.1779+196G>T	NP_079285.2:n.1779+196G>T
XM_005265788.2:c.708+196G>T	XP_005265845.1:n.708+196G>T
XM_006714055.2:c.1746+196G>T	XP_006714118.1:n.1746+196G>T
XM_011534412.1:c.249+196G>T	XP_011532714.1:n.249+196G>T
XM_005265788.4:c.708+196G>T	XP_005265845.1:n.708+196G>T
XM_006714055.3:c.1746+196G>T	XP_006714118.1:n.1746+196G>T
XM_011534412.2:c.249+196G>T	XP_011532714.1:n.249+196G>T
NM_025009.5:c.1779+196G>T MANE Select	NP_079285.2:n.1779+196G>T