Canonical Allele Identifier: CA437070220
Community Standard Title: NM_181426.2(CCDC39):c.2649A>C (p.Ser883=)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616301T>G , CM000665.2:g.180616301T>G GRCh38
NC_000003.11:g.180334089T>G , CM000665.1:g.180334089T>G GRCh37
NC_000003.10:g.181816783T>G NCBI36
NG_029581.1:g.68195A>C

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2649A>C (CCDC39) MANE Select NP_852091.1:p.Ser883=
ENST00000476379.6:c.2649A>C (CCDC39) MANE Select ENSP00000417960.2:p.Ser883=
NM_001288582.1:c.1775-1079T>G (TTC14) NP_001275511.1:n.1775-1079T>G
NM_001288582.2:c.1775-1079T>G (TTC14) NP_001275511.1:n.1775-1079T>G
NM_181426.1:c.2649A>C (CCDC39) NP_852091.1:p.Ser883=
ENST00000382584.8:c.1775-1079T>G (TTC14) ENSP00000372027.4:n.1775-1079T>G
ENST00000442201.6:c.2649A>C ENSP00000405708.2:p.Ser883=
ENST00000473854.5:c.200A>C
ENST00000476379.5:c.*473A>C ENSP00000417960.1:n.*473A>C
ENST00000489868.5:c.165A>C ENSP00000420025.1:p.Ser55=
ENST00000489868.6:c.165A>C (CCDC39) ENSP00000420025.1:p.Ser55=
ENST00000651046.1:c.2457A>C (CCDC39) ENSP00000499175.1:p.Ser819=
ENST00000651922.1:n.1974A>C (CCDC39)
ENST00000652010.1:n.2725A>C (CCDC39)