Canonical Allele Identifier: CA191315438

Gene: IFT74

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27016970G>T , CM000671.2:g.27016970G>T	GRCh38
NC_000009.11:g.27016968G>T , CM000671.1:g.27016968G>T	GRCh37
NC_000009.10:g.27006968G>T	NCBI36
NG_053083.1:g.74981G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025103.4:c.853G>T MANE Select	NP_079379.2:p.Glu285Ter
ENST00000380062.10:c.853G>T MANE Select	ENSP00000369402.5:p.Glu285Ter
NM_001099222.1:c.853G>T	NP_001092692.1:p.Glu285Ter
NM_001099222.2:c.853G>T	NP_001092692.1:p.Glu285Ter
NM_001099222.3:c.853G>T	NP_001092692.1:p.Glu285Ter
NM_001099223.1:c.853G>T	NP_001092693.1:p.Glu285Ter
NM_001099223.2:c.853G>T	NP_001092693.1:p.Glu285Ter
NM_001099223.3:c.853G>T	NP_001092693.1:p.Glu285Ter
NM_001099224.1:c.853G>T	NP_001092694.1:p.Glu285Ter
NM_001099224.2:c.853G>T	NP_001092694.1:p.Glu285Ter
NM_001099224.3:c.853G>T	NP_001092694.1:p.Glu285Ter
NM_001349928.1:c.853G>T	NP_001336857.1:p.Glu285Ter
NM_001349928.2:c.853G>T	NP_001336857.1:p.Glu285Ter
NM_025103.2:c.853G>T	NP_079379.2:p.Glu285Ter
NM_025103.3:c.853G>T	NP_079379.2:p.Glu285Ter
ENST00000380062.9:c.853G>T	ENSP00000369402.5:p.Glu285Ter
ENST00000429045.6:c.853G>T	ENSP00000393907.2:p.Glu285Ter
ENST00000433700.5:c.853G>T	ENSP00000389224.1:p.Glu285Ter
ENST00000443698.5:c.853G>T	ENSP00000404122.1:p.Glu285Ter
ENST00000648373.1:c.*305G>T	ENSP00000497616.1:n.*305G>T
XM_011518035.1:c.853G>T	XP_011516337.1:p.Glu285Ter
XM_011518036.1:c.190G>T	XP_011516338.1:p.Glu64Ter
XM_011518036.2:c.190G>T	XP_011516338.1:p.Glu64Ter
XM_017015163.1:c.190G>T	XP_016870652.1:p.Glu64Ter
XM_017015164.1:c.190G>T	XP_016870653.1:p.Glu64Ter