Canonical Allele Identifier: CA2668375844

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• gnomAD v4: 3-160282444-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282444A>G , CM000665.2:g.160282444A>G	GRCh38
NC_000003.11:g.160000232A>G , CM000665.1:g.160000232A>G	GRCh37
NC_000003.10:g.161482926A>G	NCBI36
NG_022932.1:g.122089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1516+34T>C (IFT80) MANE Select	ENSP00000312778.7:n.1516+34T>C
ENST00000326448.11:c.1516+34T>C (IFT80)	ENSP00000312778.7:n.1516+34T>C
ENST00000483465.5:c.1105+34T>C (IFT80)	ENSP00000418196.1:n.1105+34T>C
ENST00000483754.1:c.2029+34T>C (TRIM59-IFT80)	ENSP00000456272.1:n.2029+34T>C
ENST00000487943.5:n.2735+34T>C (IFT80)
ENST00000496589.5:c.1105+34T>C (IFT80)	ENSP00000420646.1:n.1105+34T>C
NM_001190241.1:c.1105+34T>C (IFT80)	NP_001177170.1:n.1105+34T>C
NM_001190242.1:c.1105+34T>C (IFT80)	NP_001177171.1:n.1105+34T>C
NM_020800.2:c.1516+34T>C (IFT80)	NP_065851.1:n.1516+34T>C
XR_924138.1:n.2900-7228A>G (C3orf80)
NR_148401.1:n.2224+34T>C (TRIM59-IFT80)
NR_148402.1:n.3760+34T>C (TRIM59-IFT80)
NR_148403.1:n.4027+34T>C (TRIM59-IFT80)
NM_020800.3:c.1516+34T>C (IFT80) MANE Select	NP_065851.1:n.1516+34T>C
NM_001190241.2:c.1105+34T>C (IFT80)	NP_001177170.1:n.1105+34T>C
NM_001190242.2:c.1105+34T>C (IFT80)	NP_001177171.1:n.1105+34T>C