Canonical Allele Identifier: CA355310351
Community Standard Title: NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180647222C>A , CM000665.2:g.180647222C>A GRCh38
NC_000003.11:g.180365010C>A , CM000665.1:g.180365010C>A GRCh37
NC_000003.10:g.181847704C>A NCBI36
NG_029581.1:g.37274G>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1384G>T MANE Select NP_852091.1:p.Glu462Ter
ENST00000476379.6:c.1384G>T MANE Select ENSP00000417960.2:p.Glu462Ter
NM_181426.1:c.1384G>T NP_852091.1:p.Glu462Ter
ENST00000442201.6:c.1384G>T ENSP00000405708.2:p.Glu462Ter
ENST00000476379.5:c.1384G>T ENSP00000417960.1:p.Glu462Ter
ENST00000650641.1:n.1271G>T
ENST00000650889.1:n.1775G>T
ENST00000651046.1:c.1192G>T ENSP00000499175.1:p.Glu398Ter
ENST00000651818.1:n.1334G>T
ENST00000651922.1:n.709G>T
ENST00000652024.1:n.1283G>T
ENST00000652408.1:n.1521G>T