Canonical Allele Identifier: CA437318145
Community Standard Title: NM_181426.2(CCDC39):c.2400C>G (p.Thr800=)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616832G>C , CM000665.2:g.180616832G>C GRCh38
NC_000003.11:g.180334620G>C , CM000665.1:g.180334620G>C GRCh37
NC_000003.10:g.181817314G>C NCBI36
NG_029581.1:g.67664C>G

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2400C>G (CCDC39) MANE Select NP_852091.1:p.Thr800=
ENST00000476379.6:c.2400C>G (CCDC39) MANE Select ENSP00000417960.2:p.Thr800=
NM_001288582.1:c.1775-548G>C (TTC14) NP_001275511.1:n.1775-548G>C
NM_001288582.2:c.1775-548G>C (TTC14) NP_001275511.1:n.1775-548G>C
NM_181426.1:c.2400C>G (CCDC39) NP_852091.1:p.Thr800=
ENST00000382584.8:c.1775-548G>C (TTC14) ENSP00000372027.4:n.1775-548G>C
ENST00000442201.6:c.2400C>G ENSP00000405708.2:p.Thr800=
ENST00000476379.5:c.*224C>G ENSP00000417960.1:n.*224C>G
ENST00000651046.1:c.2208C>G (CCDC39) ENSP00000499175.1:p.Thr736=
ENST00000651922.1:n.1725C>G (CCDC39)
ENST00000652010.1:n.2476C>G (CCDC39)