Canonical Allele Identifier: CA355304382
Community Standard Title: NM_181426.2(CCDC39):c.139G>T (p.Glu47Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180663938C>A , CM000665.2:g.180663938C>A GRCh38
NC_000003.11:g.180381726C>A , CM000665.1:g.180381726C>A GRCh37
NC_000003.10:g.181864420C>A NCBI36
NG_029581.1:g.20558G>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.139G>T MANE Select NP_852091.1:p.Glu47Ter
ENST00000476379.6:c.139G>T MANE Select ENSP00000417960.2:p.Glu47Ter
NM_181426.1:c.139G>T NP_852091.1:p.Glu47Ter
ENST00000442201.6:c.139G>T ENSP00000405708.2:p.Glu47Ter
ENST00000471307.6:c.85G>T ENSP00000418702.2:p.Glu29Ter
ENST00000476379.5:c.139G>T ENSP00000417960.1:p.Glu47Ter
ENST00000650641.1:n.218G>T
ENST00000650889.1:n.311G>T
ENST00000651046.1:c.139G>T ENSP00000499175.1:p.Glu47Ter
ENST00000651818.1:n.281G>T
ENST00000652024.1:n.230G>T
ENST00000652408.1:n.276G>T