Canonical Allele Identifier: CA2981500214
Community Standard Title: NM_025009.5(CEP135):c.114-97G>T
Gene: CEP135 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55952988G>T , CM000666.2:g.55952988G>T GRCh38
NC_000004.11:g.56819154G>T , CM000666.1:g.56819154G>T GRCh37
NC_000004.10:g.56513911G>T NCBI36
NG_032806.1:g.9181G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025009.5:c.114-97G>T MANE Select NP_079285.2:n.114-97G>T
ENST00000257287.5:c.114-97G>T MANE Select ENSP00000257287.3:n.114-97G>T
NM_025009.4:c.114-97G>T NP_079285.2:n.114-97G>T
ENST00000257287.4:c.114-97G>T ENSP00000257287.3:n.114-97G>T
ENST00000422247.6:c.114-97G>T ENSP00000412799.2:n.114-97G>T
ENST00000706800.1:n.287-97G>T
XM_005265788.4:c.-954-97G>T XP_005265845.1:n.-954-97G>T
XM_006714055.2:c.114-97G>T XP_006714118.1:n.114-97G>T
XM_006714055.3:c.114-97G>T XP_006714118.1:n.114-97G>T
XR_941064.1:n.472-517C>A