Canonical Allele Identifier: CA5015009
Community Standard Title: NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)
Gene: IFT74 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26990143C>G , CM000671.2:g.26990143C>G GRCh38
NC_000009.11:g.26990141C>G , CM000671.1:g.26990141C>G GRCh37
NC_000009.10:g.26980141C>G NCBI36
NG_053083.1:g.48154C>G

Transcript Alleles

HGVS Amino-acid Change
NM_025103.4:c.535C>G MANE Select NP_079379.2:p.Gln179Glu
ENST00000380062.10:c.535C>G MANE Select ENSP00000369402.5:p.Gln179Glu
NM_001099222.1:c.535C>G NP_001092692.1:p.Gln179Glu
NM_001099222.2:c.535C>G NP_001092692.1:p.Gln179Glu
NM_001099222.3:c.535C>G NP_001092692.1:p.Gln179Glu
NM_001099223.1:c.535C>G NP_001092693.1:p.Gln179Glu
NM_001099223.2:c.535C>G NP_001092693.1:p.Gln179Glu
NM_001099223.3:c.535C>G NP_001092693.1:p.Gln179Glu
NM_001099224.1:c.535C>G NP_001092694.1:p.Gln179Glu
NM_001099224.2:c.535C>G NP_001092694.1:p.Gln179Glu
NM_001099224.3:c.535C>G NP_001092694.1:p.Gln179Glu
NM_001349928.1:c.535C>G NP_001336857.1:p.Gln179Glu
NM_001349928.2:c.535C>G NP_001336857.1:p.Gln179Glu
NM_025103.2:c.535C>G NP_079379.2:p.Gln179Glu
NM_025103.3:c.535C>G NP_079379.2:p.Gln179Glu
ENST00000380062.9:c.535C>G ENSP00000369402.5:p.Gln179Glu
ENST00000429045.6:c.535C>G ENSP00000393907.2:p.Gln179Glu
ENST00000433700.5:c.535C>G ENSP00000389224.1:p.Gln179Glu
ENST00000443698.5:c.535C>G ENSP00000404122.1:p.Gln179Glu
ENST00000517866.1:c.421C>G ENSP00000430742.1:p.Gln141Glu
ENST00000648373.1:c.535C>G ENSP00000497616.1:p.Gln179Glu
XM_011518035.1:c.535C>G XP_011516337.1:p.Gln179Glu