Canonical Allele Identifier: CA2715993
Community Standard Title: NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180648351A>G , CM000665.2:g.180648351A>G GRCh38
NC_000003.11:g.180366139A>G , CM000665.1:g.180366139A>G GRCh37
NC_000003.10:g.181848833A>G NCBI36
NG_029581.1:g.36145T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1176T>C MANE Select NP_852091.1:p.Asp392=
ENST00000476379.6:c.1176T>C MANE Select ENSP00000417960.2:p.Asp392=
NM_181426.1:c.1176T>C NP_852091.1:p.Asp392=
ENST00000442201.6:c.1176T>C ENSP00000405708.2:p.Asp392=
ENST00000476379.5:c.1176T>C ENSP00000417960.1:p.Asp392=
ENST00000650641.1:n.1063T>C
ENST00000650889.1:n.1567T>C
ENST00000651046.1:c.984T>C ENSP00000499175.1:p.Asp328=
ENST00000651818.1:n.1126T>C
ENST00000651922.1:n.501T>C
ENST00000652024.1:n.1075T>C
ENST00000652408.1:n.1313T>C