Canonical Allele Identifier: CA436487539
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.160000276A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160282488A>G , CM000665.2:g.160282488A>G GRCh38
NC_000003.11:g.160000276A>G , CM000665.1:g.160000276A>G GRCh37
NC_000003.10:g.161482970A>G NCBI36
NG_022932.1:g.122045T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326448.12:c.1506T>C (IFT80) MANE Select ENSP00000312778.7:p.Ile502=
ENST00000326448.11:c.1506T>C (IFT80) ENSP00000312778.7:p.Ile502=
ENST00000483465.5:c.1095T>C (IFT80) ENSP00000418196.1:p.Ile365=
ENST00000483754.1:c.2019T>C (TRIM59-IFT80) ENSP00000456272.1:p.Ile673=
ENST00000487943.5:n.2725T>C (IFT80)
ENST00000496589.5:c.1095T>C (IFT80) ENSP00000420646.1:p.Ile365=
NM_001190241.1:c.1095T>C (IFT80) NP_001177170.1:p.Ile365=
NM_001190242.1:c.1095T>C (IFT80) NP_001177171.1:p.Ile365=
NM_020800.2:c.1506T>C (IFT80) NP_065851.1:p.Ile502=
XR_924138.1:n.2900-7184A>G (C3orf80)
NR_148401.1:n.2214T>C (TRIM59-IFT80)
NR_148402.1:n.3750T>C (TRIM59-IFT80)
NR_148403.1:n.4017T>C (TRIM59-IFT80)
NM_020800.3:c.1506T>C (IFT80) MANE Select NP_065851.1:p.Ile502=
NM_001190241.2:c.1095T>C (IFT80) NP_001177170.1:p.Ile365=
NM_001190242.2:c.1095T>C (IFT80) NP_001177171.1:p.Ile365=