Canonical Allele Identifier: CA355303998
Community Standard Title: NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180661941C>A , CM000665.2:g.180661941C>A GRCh38
NC_000003.11:g.180379729C>A , CM000665.1:g.180379729C>A GRCh37
NC_000003.10:g.181862423C>A NCBI36
NG_029581.1:g.22555G>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.277G>T MANE Select NP_852091.1:p.Glu93Ter
ENST00000476379.6:c.277G>T MANE Select ENSP00000417960.2:p.Glu93Ter
NM_181426.1:c.277G>T NP_852091.1:p.Glu93Ter
ENST00000442201.6:c.277G>T ENSP00000405708.2:p.Glu93Ter
ENST00000471307.6:c.223G>T ENSP00000418702.2:p.Glu75Ter
ENST00000476379.5:c.277G>T ENSP00000417960.1:p.Glu93Ter
ENST00000650641.1:n.356G>T
ENST00000650889.1:n.449G>T
ENST00000651046.1:c.277G>T ENSP00000499175.1:p.Glu93Ter
ENST00000651818.1:n.419G>T
ENST00000652024.1:n.368G>T
ENST00000652408.1:n.414G>T