Canonical Allele Identifier: CA355192423
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160282577G>C , CM000665.2:g.160282577G>C GRCh38
NC_000003.11:g.160000365G>C , CM000665.1:g.160000365G>C GRCh37
NC_000003.10:g.161483059G>C NCBI36
NG_022932.1:g.121956C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.1417C>G (IFT80) MANE Select ENSP00000312778.7:p.Leu473Val
ENST00000326448.11:c.1417C>G (IFT80) ENSP00000312778.7:p.Leu473Val
ENST00000483465.5:c.1006C>G (IFT80) ENSP00000418196.1:p.Leu336Val
ENST00000483754.1:c.1930C>G (TRIM59-IFT80) ENSP00000456272.1:p.Leu644Val
ENST00000487943.5:n.2636C>G (IFT80)
ENST00000496589.5:c.1006C>G (IFT80) ENSP00000420646.1:p.Leu336Val
NM_001190241.1:c.1006C>G (IFT80) NP_001177170.1:p.Leu336Val
NM_001190242.1:c.1006C>G (IFT80) NP_001177171.1:p.Leu336Val
NM_020800.2:c.1417C>G (IFT80) NP_065851.1:p.Leu473Val
XR_924138.1:n.2900-7095G>C (C3orf80)
NR_148401.1:n.2125C>G (TRIM59-IFT80)
NR_148402.1:n.3661C>G (TRIM59-IFT80)
NR_148403.1:n.3928C>G (TRIM59-IFT80)
NM_020800.3:c.1417C>G (IFT80) MANE Select NP_065851.1:p.Leu473Val
NM_001190241.2:c.1006C>G (IFT80) NP_001177170.1:p.Leu336Val
NM_001190242.2:c.1006C>G (IFT80) NP_001177171.1:p.Leu336Val