Canonical Allele Identifier: CA2715717
Community Standard Title: NM_181426.2(CCDC39):c.2266-5T>C
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616971A>G , CM000665.2:g.180616971A>G GRCh38
NC_000003.11:g.180334759A>G , CM000665.1:g.180334759A>G GRCh37
NC_000003.10:g.181817453A>G NCBI36
NG_029581.1:g.67525T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2266-5T>C (CCDC39) MANE Select NP_852091.1:n.2266-5T>C
ENST00000476379.6:c.2266-5T>C (CCDC39) MANE Select ENSP00000417960.2:n.2266-5T>C
NM_001288582.1:c.1775-409A>G (TTC14) NP_001275511.1:n.1775-409A>G
NM_001288582.2:c.1775-409A>G (TTC14) NP_001275511.1:n.1775-409A>G
NM_181426.1:c.2266-5T>C (CCDC39) NP_852091.1:n.2266-5T>C
ENST00000382584.8:c.1775-409A>G (TTC14) ENSP00000372027.4:n.1775-409A>G
ENST00000442201.6:c.2266-5T>C ENSP00000405708.2:n.2266-5T>C
ENST00000476379.5:c.*90-5T>C ENSP00000417960.1:n.*90-5T>C
ENST00000651046.1:c.2074-5T>C (CCDC39) ENSP00000499175.1:n.2074-5T>C
ENST00000651922.1:n.1591-5T>C (CCDC39)
ENST00000652010.1:n.2342-5T>C (CCDC39)