Canonical Allele Identifier: CA2684950

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160268480C>T , CM000665.2:g.160268480C>T	GRCh38
NC_000003.11:g.159986268C>T , CM000665.1:g.159986268C>T	GRCh37
NC_000003.10:g.161468962C>T	NCBI36
NG_022932.1:g.136053G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.2156G>A (IFT80) MANE Select	NP_065851.1:p.Arg719His
ENST00000326448.12:c.2156G>A (IFT80) MANE Select	ENSP00000312778.7:p.Arg719His
NM_001190241.1:c.1745G>A (IFT80)	NP_001177170.1:p.Arg582His
NM_001190241.2:c.1745G>A (IFT80)	NP_001177170.1:p.Arg582His
NM_001190242.1:c.1745G>A (IFT80)	NP_001177171.1:p.Arg582His
NM_001190242.2:c.1745G>A (IFT80)	NP_001177171.1:p.Arg582His
NM_020800.2:c.2156G>A (IFT80)	NP_065851.1:p.Arg719His
NR_148401.1:n.2864G>A (TRIM59-IFT80)
NR_148402.1:n.4400G>A (TRIM59-IFT80)
NR_148403.1:n.4667G>A (TRIM59-IFT80)
ENST00000326448.11:c.2156G>A (IFT80)	ENSP00000312778.7:p.Arg719His
ENST00000463240.1:n.304G>A (IFT80)
ENST00000478278.1:n.282G>A (IFT80)
ENST00000483465.5:c.1745G>A (IFT80)	ENSP00000418196.1:p.Arg582His
ENST00000483754.1:c.2669G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Arg890His
ENST00000487943.5:n.3375G>A (IFT80)
ENST00000496589.5:c.1745G>A (IFT80)	ENSP00000420646.1:p.Arg582His
XR_924137.1:n.2944+7566C>T (C3orf80)
XR_924138.1:n.2900-21192C>T (C3orf80)