Canonical Allele Identifier: CA355299313
Community Standard Title: NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180652191T>A , CM000665.2:g.180652191T>A GRCh38
NC_000003.11:g.180369979T>A , CM000665.1:g.180369979T>A GRCh37
NC_000003.10:g.181852673T>A NCBI36
NG_029581.1:g.32305A>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1006A>T MANE Select NP_852091.1:p.Lys336Ter
ENST00000476379.6:c.1006A>T MANE Select ENSP00000417960.2:p.Lys336Ter
NM_181426.1:c.1006A>T NP_852091.1:p.Lys336Ter
ENST00000442201.6:c.1006A>T ENSP00000405708.2:p.Lys336Ter
ENST00000476379.5:c.1006A>T ENSP00000417960.1:p.Lys336Ter
ENST00000650641.1:n.893A>T
ENST00000650889.1:n.1397A>T
ENST00000651046.1:c.814A>T ENSP00000499175.1:p.Lys272Ter
ENST00000651818.1:n.956A>T
ENST00000651922.1:n.331A>T
ENST00000652024.1:n.905A>T
ENST00000652408.1:n.1143A>T