Canonical Allele Identifier: CA2716207
Community Standard Title: NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180661932G>A , CM000665.2:g.180661932G>A GRCh38
NC_000003.11:g.180379720G>A , CM000665.1:g.180379720G>A GRCh37
NC_000003.10:g.181862414G>A NCBI36
NG_029581.1:g.22564C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.286C>T MANE Select NP_852091.1:p.Arg96Ter
ENST00000476379.6:c.286C>T MANE Select ENSP00000417960.2:p.Arg96Ter
NM_181426.1:c.286C>T NP_852091.1:p.Arg96Ter
ENST00000442201.6:c.286C>T ENSP00000405708.2:p.Arg96Ter
ENST00000471307.6:c.232C>T ENSP00000418702.2:p.Arg78Ter
ENST00000476379.5:c.286C>T ENSP00000417960.1:p.Arg96Ter
ENST00000650641.1:n.365C>T
ENST00000650889.1:n.458C>T
ENST00000651046.1:c.286C>T ENSP00000499175.1:p.Arg96Ter
ENST00000651818.1:n.428C>T
ENST00000652024.1:n.377C>T
ENST00000652408.1:n.423C>T