Canonical Allele Identifier: CA5608870
Community Standard Title: NM_018131.5(CEP55):c.295A>G (p.Thr99Ala)
Gene: CEP55 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93503224A>G , CM000672.2:g.93503224A>G GRCh38
NC_000010.10:g.95262981A>G , CM000672.1:g.95262981A>G GRCh37
NC_000010.9:g.95252971A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018131.5:c.295A>G MANE Select NP_060601.4:p.Thr99Ala
ENST00000371485.8:c.295A>G MANE Select ENSP00000360540.3:p.Thr99Ala
NM_001127182.2:c.295A>G NP_001120654.2:p.Thr99Ala
ENST00000371485.7:c.295A>G ENSP00000360540.3:p.Thr99Ala
XM_011539918.1:c.-213A>G XP_011538220.1:n.-213A>G
XM_011539919.1:c.-213A>G XP_011538221.1:n.-213A>G
XM_011539920.1:c.-213A>G XP_011538222.1:n.-213A>G
XM_011539920.2:c.-213A>G XP_011538222.1:n.-213A>G
XM_017016372.1:c.-213A>G XP_016871861.1:n.-213A>G
XM_017016373.1:c.-213A>G XP_016871862.1:n.-213A>G