Canonical Allele Identifier: CA1459320848
Gene: CEP135 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55955640C>A , CM000666.2:g.55955640C>A GRCh38
NC_000004.11:g.56821806C>A , CM000666.1:g.56821806C>A GRCh37
NC_000004.10:g.56516563C>A NCBI36
NG_032806.1:g.11833C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706800.1:n.645+1257C>A
ENST00000257287.5:c.472+1257C>A MANE Select ENSP00000257287.3:n.472+1257C>A
ENST00000257287.4:c.472+1257C>A ENSP00000257287.3:n.472+1257C>A
ENST00000422247.6:c.472+1257C>A ENSP00000412799.2:n.472+1257C>A
ENST00000515081.1:n.106+1257C>A
NM_025009.4:c.472+1257C>A NP_079285.2:n.472+1257C>A
XM_006714055.2:c.472+1257C>A XP_006714118.1:n.472+1257C>A
XR_941064.1:n.472-3169G>T
XM_005265788.4:c.-596+1257C>A XP_005265845.1:n.-596+1257C>A
XM_006714055.3:c.472+1257C>A XP_006714118.1:n.472+1257C>A
NM_025009.5:c.472+1257C>A MANE Select NP_079285.2:n.472+1257C>A