Canonical Allele Identifier: CA355309434
Community Standard Title: NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180644149C>A , CM000665.2:g.180644149C>A GRCh38
NC_000003.11:g.180361937C>A , CM000665.1:g.180361937C>A GRCh37
NC_000003.10:g.181844631C>A NCBI36
NG_029581.1:g.40347G>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1636G>T MANE Select NP_852091.1:p.Glu546Ter
ENST00000476379.6:c.1636G>T MANE Select ENSP00000417960.2:p.Glu546Ter
NM_181426.1:c.1636G>T NP_852091.1:p.Glu546Ter
ENST00000442201.6:c.1636G>T ENSP00000405708.2:p.Glu546Ter
ENST00000476379.5:c.1636G>T ENSP00000417960.1:p.Glu546Ter
ENST00000650641.1:n.1523G>T
ENST00000650889.1:n.4848G>T
ENST00000651046.1:c.1444G>T ENSP00000499175.1:p.Glu482Ter
ENST00000651818.1:n.1586G>T
ENST00000651922.1:n.961G>T
ENST00000652024.1:n.4356G>T
ENST00000652408.1:n.1773G>T