Canonical Allele Identifier: CA2716239
Community Standard Title: NM_181426.2(CCDC39):c.137G>A (p.Arg46His)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180663940C>T , CM000665.2:g.180663940C>T GRCh38
NC_000003.11:g.180381728C>T , CM000665.1:g.180381728C>T GRCh37
NC_000003.10:g.181864422C>T NCBI36
NG_029581.1:g.20556G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.137G>A MANE Select NP_852091.1:p.Arg46His
ENST00000476379.6:c.137G>A MANE Select ENSP00000417960.2:p.Arg46His
NM_181426.1:c.137G>A NP_852091.1:p.Arg46His
ENST00000442201.6:c.137G>A ENSP00000405708.2:p.Arg46His
ENST00000471307.6:c.83G>A ENSP00000418702.2:p.Arg28His
ENST00000476379.5:c.137G>A ENSP00000417960.1:p.Arg46His
ENST00000650641.1:n.216G>A
ENST00000650889.1:n.309G>A
ENST00000651046.1:c.137G>A ENSP00000499175.1:p.Arg46His
ENST00000651818.1:n.279G>A
ENST00000652024.1:n.228G>A
ENST00000652408.1:n.274G>A