Canonical Allele Identifier: CA355304467
Community Standard Title: NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180663965T>A , CM000665.2:g.180663965T>A GRCh38
NC_000003.11:g.180381753T>A , CM000665.1:g.180381753T>A GRCh37
NC_000003.10:g.181864447T>A NCBI36
NG_029581.1:g.20531A>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.112A>T MANE Select NP_852091.1:p.Arg38Ter
ENST00000476379.6:c.112A>T MANE Select ENSP00000417960.2:p.Arg38Ter
NM_181426.1:c.112A>T NP_852091.1:p.Arg38Ter
ENST00000442201.6:c.112A>T ENSP00000405708.2:p.Arg38Ter
ENST00000471307.6:c.58A>T ENSP00000418702.2:p.Arg20Ter
ENST00000476379.5:c.112A>T ENSP00000417960.1:p.Arg38Ter
ENST00000650641.1:n.191A>T
ENST00000650889.1:n.284A>T
ENST00000651046.1:c.112A>T ENSP00000499175.1:p.Arg38Ter
ENST00000651818.1:n.254A>T
ENST00000652024.1:n.203A>T
ENST00000652408.1:n.249A>T