Canonical Allele Identifier: CA2685436

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160357582T>A , CM000665.2:g.160357582T>A	GRCh38
NC_000003.11:g.160075370T>A , CM000665.1:g.160075370T>A	GRCh37
NC_000003.10:g.161558064T>A	NCBI36
NG_022932.1:g.46951A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.550-4A>T (IFT80) MANE Select	NP_065851.1:n.550-4A>T
ENST00000326448.12:c.550-4A>T (IFT80) MANE Select	ENSP00000312778.7:n.550-4A>T
NM_001190241.1:c.139-4A>T (IFT80)	NP_001177170.1:n.139-4A>T
NM_001190241.2:c.139-4A>T (IFT80)	NP_001177170.1:n.139-4A>T
NM_001190242.1:c.139-4A>T (IFT80)	NP_001177171.1:n.139-4A>T
NM_001190242.2:c.139-4A>T (IFT80)	NP_001177171.1:n.139-4A>T
NM_020800.2:c.550-4A>T (IFT80)	NP_065851.1:n.550-4A>T
NR_148401.1:n.1258-4A>T (TRIM59-IFT80)
NR_148402.1:n.2794-4A>T (TRIM59-IFT80)
NR_148403.1:n.3061-4A>T (TRIM59-IFT80)
ENST00000326448.11:c.550-4A>T (IFT80)	ENSP00000312778.7:n.550-4A>T
ENST00000465537.5:c.139-4A>T (IFT80)	ENSP00000418602.1:n.139-4A>T
ENST00000472773.5:n.564-4A>T (IFT80)
ENST00000475677.5:c.139-4A>T (IFT80)	ENSP00000419458.1:n.139-4A>T
ENST00000478460.5:n.257-4A>T (IFT80)
ENST00000483465.5:c.139-4A>T (IFT80)	ENSP00000418196.1:n.139-4A>T
ENST00000483754.1:c.1063-4A>T (TRIM59-IFT80)	ENSP00000456272.1:n.1063-4A>T
ENST00000484963.5:c.155-4A>T (IFT80)	ENSP00000420260.1:n.155-4A>T
ENST00000487943.5:n.1769-4A>T (IFT80)
ENST00000496589.5:c.139-4A>T (IFT80)	ENSP00000420646.1:n.139-4A>T