Canonical Allele Identifier: CA377598439
Community Standard Title: NM_018131.5(CEP55):c.242A>G (p.Asp81Gly)
Gene: CEP55 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93503171A>G , CM000672.2:g.93503171A>G GRCh38
NC_000010.10:g.95262928A>G , CM000672.1:g.95262928A>G GRCh37
NC_000010.9:g.95252918A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018131.5:c.242A>G MANE Select NP_060601.4:p.Asp81Gly
ENST00000371485.8:c.242A>G MANE Select ENSP00000360540.3:p.Asp81Gly
NM_001127182.1:c.242A>G NP_001120654.1:p.Asp81Gly
NM_001127182.2:c.242A>G NP_001120654.2:p.Asp81Gly
NM_018131.4:c.242A>G NP_060601.3:p.Asp81Gly
ENST00000371485.7:c.242A>G ENSP00000360540.3:p.Asp81Gly
XM_011539918.1:c.-266A>G XP_011538220.1:n.-266A>G
XM_011539919.1:c.-266A>G XP_011538221.1:n.-266A>G
XM_011539920.1:c.-266A>G XP_011538222.1:n.-266A>G
XM_011539920.2:c.-266A>G XP_011538222.1:n.-266A>G
XM_017016372.1:c.-266A>G XP_016871861.1:n.-266A>G
XM_017016373.1:c.-266A>G XP_016871862.1:n.-266A>G