Canonical Allele Identifier: CA2685315

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160319805C>T , CM000665.2:g.160319805C>T	GRCh38
NC_000003.11:g.160037593C>T , CM000665.1:g.160037593C>T	GRCh37
NC_000003.10:g.161520287C>T	NCBI36
NG_022932.1:g.84728G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.912G>A (IFT80) MANE Select	NP_065851.1:p.Glu304=
ENST00000326448.12:c.912G>A (IFT80) MANE Select	ENSP00000312778.7:p.Glu304=
NM_001190241.1:c.501G>A (IFT80)	NP_001177170.1:p.Glu167=
NM_001190241.2:c.501G>A (IFT80)	NP_001177170.1:p.Glu167=
NM_001190242.1:c.501G>A (IFT80)	NP_001177171.1:p.Glu167=
NM_001190242.2:c.501G>A (IFT80)	NP_001177171.1:p.Glu167=
NM_020800.2:c.912G>A (IFT80)	NP_065851.1:p.Glu304=
NR_148401.1:n.1620G>A (TRIM59-IFT80)
NR_148402.1:n.3156G>A (TRIM59-IFT80)
NR_148403.1:n.3423G>A (TRIM59-IFT80)
ENST00000326448.11:c.912G>A (IFT80)	ENSP00000312778.7:p.Glu304=
ENST00000461213.1:n.343G>A (IFT80)
ENST00000472555.5:c.449G>A (IFT80)
ENST00000483465.5:c.501G>A (IFT80)	ENSP00000418196.1:p.Glu167=
ENST00000483754.1:c.1425G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Glu475=
ENST00000487943.5:n.2131G>A (IFT80)
ENST00000496589.5:c.501G>A (IFT80)	ENSP00000420646.1:p.Glu167=