Canonical Allele Identifier: CA355191115

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160280666C>T , CM000665.2:g.160280666C>T	GRCh38
NC_000003.11:g.159998454C>T , CM000665.1:g.159998454C>T	GRCh37
NC_000003.10:g.161481148C>T	NCBI36
NG_022932.1:g.123867G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.1664+1G>A (IFT80) MANE Select	NP_065851.1:n.1664+1G>A
ENST00000326448.12:c.1664+1G>A (IFT80) MANE Select	ENSP00000312778.7:n.1664+1G>A
NM_001190241.1:c.1253+1G>A (IFT80)	NP_001177170.1:n.1253+1G>A
NM_001190241.2:c.1253+1G>A (IFT80)	NP_001177170.1:n.1253+1G>A
NM_001190242.1:c.1253+1G>A (IFT80)	NP_001177171.1:n.1253+1G>A
NM_001190242.2:c.1253+1G>A (IFT80)	NP_001177171.1:n.1253+1G>A
NM_020800.2:c.1664+1G>A (IFT80)	NP_065851.1:n.1664+1G>A
NR_148401.1:n.2372+1G>A (TRIM59-IFT80)
NR_148402.1:n.3908+1G>A (TRIM59-IFT80)
NR_148403.1:n.4175+1G>A (TRIM59-IFT80)
ENST00000326448.11:c.1664+1G>A (IFT80)	ENSP00000312778.7:n.1664+1G>A
ENST00000483465.5:c.1253+1G>A (IFT80)	ENSP00000418196.1:n.1253+1G>A
ENST00000483754.1:c.2177+1G>A (TRIM59-IFT80)	ENSP00000456272.1:n.2177+1G>A
ENST00000487943.5:n.2883+1G>A (IFT80)
ENST00000496589.5:c.1253+1G>A (IFT80)	ENSP00000420646.1:n.1253+1G>A
XR_924137.1:n.2945-441C>T (C3orf80)
XR_924138.1:n.2900-9006C>T (C3orf80)