Canonical Allele Identifier: CA2715591
Community Standard Title: NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180614952C>T , CM000665.2:g.180614952C>T GRCh38
NC_000003.11:g.180332740C>T , CM000665.1:g.180332740C>T GRCh37
NC_000003.10:g.181815434C>T NCBI36
NG_029581.1:g.69544G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2795G>A (CCDC39) MANE Select NP_852091.1:p.Ser932Asn
ENST00000476379.6:c.2795G>A (CCDC39) MANE Select ENSP00000417960.2:p.Ser932Asn
NM_001288582.1:c.1775-2428C>T (TTC14) NP_001275511.1:n.1775-2428C>T
NM_001288582.2:c.1775-2428C>T (TTC14) NP_001275511.1:n.1775-2428C>T
NM_181426.1:c.2795G>A (CCDC39) NP_852091.1:p.Ser932Asn
ENST00000382584.8:c.1775-2428C>T (TTC14) ENSP00000372027.4:n.1775-2428C>T
ENST00000442201.6:c.2795G>A ENSP00000405708.2:p.Ser932Asn
ENST00000473854.5:c.302+44G>A
ENST00000476379.5:c.*619G>A ENSP00000417960.1:n.*619G>A
ENST00000489868.5:c.186-1088G>A ENSP00000420025.1:n.186-1088G>A
ENST00000489868.6:c.186-1088G>A (CCDC39) ENSP00000420025.1:n.186-1088G>A
ENST00000651046.1:c.2603G>A (CCDC39) ENSP00000499175.1:p.Ser868Asn
ENST00000651922.1:n.2120G>A (CCDC39)
ENST00000652010.1:n.2871G>A (CCDC39)