Canonical Allele Identifier: CA2685466
Community Standard Title: NM_020800.3(IFT80):c.468C>T (p.Gly156=)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160366124G>A , CM000665.2:g.160366124G>A GRCh38
NC_000003.11:g.160083912G>A , CM000665.1:g.160083912G>A GRCh37
NC_000003.10:g.161566606G>A NCBI36
NG_022932.1:g.38409C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.468C>T (IFT80) MANE Select NP_065851.1:p.Gly156=
ENST00000326448.12:c.468C>T (IFT80) MANE Select ENSP00000312778.7:p.Gly156=
NM_001190241.1:c.57C>T (IFT80) NP_001177170.1:p.Gly19=
NM_001190241.2:c.57C>T (IFT80) NP_001177170.1:p.Gly19=
NM_001190242.1:c.57C>T (IFT80) NP_001177171.1:p.Gly19=
NM_001190242.2:c.57C>T (IFT80) NP_001177171.1:p.Gly19=
NM_020800.2:c.468C>T (IFT80) NP_065851.1:p.Gly156=
NR_148401.1:n.1176C>T (TRIM59-IFT80)
NR_148402.1:n.2712C>T (TRIM59-IFT80)
NR_148403.1:n.2979C>T (TRIM59-IFT80)
ENST00000326448.11:c.468C>T (IFT80) ENSP00000312778.7:p.Gly156=
ENST00000465537.5:c.57C>T (IFT80) ENSP00000418602.1:p.Gly19=
ENST00000468218.5:c.57C>T (IFT80) ENSP00000417057.1:p.Gly19=
ENST00000472773.5:n.564-8546C>T (IFT80)
ENST00000475677.5:c.57C>T (IFT80) ENSP00000419458.1:p.Gly19=
ENST00000478370.5:c.57C>T (IFT80) ENSP00000420758.1:p.Gly19=
ENST00000478460.5:n.257-8546C>T (IFT80)
ENST00000483465.5:c.57C>T (IFT80) ENSP00000418196.1:p.Gly19=
ENST00000483754.1:c.981C>T (TRIM59-IFT80) ENSP00000456272.1:p.Gly327=
ENST00000484963.5:c.123C>T (IFT80) ENSP00000420260.1:p.Gly41=
ENST00000486856.5:c.57C>T (IFT80) ENSP00000417861.1:p.Gly19=
ENST00000487943.5:n.1769-8546C>T (IFT80)
ENST00000496589.5:c.57C>T (IFT80) ENSP00000420646.1:p.Gly19=
ENST00000498409.5:c.468C>T (IFT80) ENSP00000420001.1:p.Gly156=