Canonical Allele Identifier: CA373127516
Community Standard Title: NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
Gene: IFT74 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26984309G>T , CM000671.2:g.26984309G>T GRCh38
NC_000009.11:g.26984307G>T , CM000671.1:g.26984307G>T GRCh37
NC_000009.10:g.26974307G>T NCBI36
NG_053083.1:g.42320G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025103.4:c.358G>T MANE Select NP_079379.2:p.Glu120Ter
ENST00000380062.10:c.358G>T MANE Select ENSP00000369402.5:p.Glu120Ter
NM_001099222.1:c.358G>T NP_001092692.1:p.Glu120Ter
NM_001099222.2:c.358G>T NP_001092692.1:p.Glu120Ter
NM_001099222.3:c.358G>T NP_001092692.1:p.Glu120Ter
NM_001099223.1:c.358G>T NP_001092693.1:p.Glu120Ter
NM_001099223.2:c.358G>T NP_001092693.1:p.Glu120Ter
NM_001099223.3:c.358G>T NP_001092693.1:p.Glu120Ter
NM_001099224.1:c.358G>T NP_001092694.1:p.Glu120Ter
NM_001099224.2:c.358G>T NP_001092694.1:p.Glu120Ter
NM_001099224.3:c.358G>T NP_001092694.1:p.Glu120Ter
NM_001349928.1:c.358G>T NP_001336857.1:p.Glu120Ter
NM_001349928.2:c.358G>T NP_001336857.1:p.Glu120Ter
NM_025103.2:c.358G>T NP_079379.2:p.Glu120Ter
NM_025103.3:c.358G>T NP_079379.2:p.Glu120Ter
ENST00000380062.9:c.358G>T ENSP00000369402.5:p.Glu120Ter
ENST00000429045.6:c.358G>T ENSP00000393907.2:p.Glu120Ter
ENST00000433700.5:c.358G>T ENSP00000389224.1:p.Glu120Ter
ENST00000443698.5:c.358G>T ENSP00000404122.1:p.Glu120Ter
ENST00000494236.1:n.478G>T
ENST00000517444.5:c.358G>T ENSP00000430096.1:p.Glu120Ter
ENST00000517866.1:c.244G>T ENSP00000430742.1:p.Glu82Ter
ENST00000519968.5:c.358G>T ENSP00000430004.1:p.Glu120Ter
ENST00000648373.1:c.358G>T ENSP00000497616.1:p.Glu120Ter
XM_011518035.1:c.358G>T XP_011516337.1:p.Glu120Ter