Canonical Allele Identifier: CA355305148
Community Standard Title: NM_181426.2(CCDC39):c.2548A>T (p.Thr850Ser)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616554T>A , CM000665.2:g.180616554T>A GRCh38
NC_000003.11:g.180334342T>A , CM000665.1:g.180334342T>A GRCh37
NC_000003.10:g.181817036T>A NCBI36
NG_029581.1:g.67942A>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2548A>T (CCDC39) MANE Select NP_852091.1:p.Thr850Ser
ENST00000476379.6:c.2548A>T (CCDC39) MANE Select ENSP00000417960.2:p.Thr850Ser
NM_001288582.1:c.1775-826T>A (TTC14) NP_001275511.1:n.1775-826T>A
NM_001288582.2:c.1775-826T>A (TTC14) NP_001275511.1:n.1775-826T>A
NM_181426.1:c.2548A>T (CCDC39) NP_852091.1:p.Thr850Ser
ENST00000382584.8:c.1775-826T>A (TTC14) ENSP00000372027.4:n.1775-826T>A
ENST00000442201.6:c.2548A>T ENSP00000405708.2:p.Thr850Ser
ENST00000473854.5:c.99A>T
ENST00000476379.5:c.*372A>T ENSP00000417960.1:n.*372A>T
ENST00000489868.5:c.64A>T ENSP00000420025.1:p.Thr22Ser
ENST00000489868.6:c.64A>T (CCDC39) ENSP00000420025.1:p.Thr22Ser
ENST00000651046.1:c.2356A>T (CCDC39) ENSP00000499175.1:p.Thr786Ser
ENST00000651922.1:n.1873A>T (CCDC39)
ENST00000652010.1:n.2624A>T (CCDC39)