Canonical Allele Identifier: CA1459329313
Community Standard Title: NM_025009.5(CEP135):c.1473+1G=
Gene: CEP135 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55974970G= , CM000666.2:g.55974970G= GRCh38
NC_000004.11:g.56841136G= , CM000666.1:g.56841136G= GRCh37
NC_000004.10:g.56535893G= NCBI36
NG_032806.1:g.31163G=

Transcript Alleles

HGVS Amino-acid Change
NM_025009.5:c.1473+1G= MANE Select NP_079285.2:n.1473+1G=
ENST00000257287.5:c.1473+1G= MANE Select ENSP00000257287.3:n.1473+1G=
NM_025009.4:c.1473+1G= NP_079285.2:n.1473+1G=
ENST00000257287.4:c.1473+1G= ENSP00000257287.3:n.1473+1G=
ENST00000506202.1:n.1423+1G=
XM_005265788.2:c.402+1G= XP_005265845.1:n.402+1G=
XM_005265788.4:c.402+1G= XP_005265845.1:n.402+1G=
XM_006714055.2:c.1440+1G= XP_006714118.1:n.1440+1G=
XM_006714055.3:c.1440+1G= XP_006714118.1:n.1440+1G=
XM_011534412.1:c.-58+3562G= XP_011532714.1:n.-58+3562G=
XM_011534412.2:c.-58+3562G= XP_011532714.1:n.-58+3562G=