Canonical Allele Identifier: CA1415103035
Community Standard Title: NM_020800.3(IFT80):c.2101G= (p.Ala701=)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160268535C= , CM000665.2:g.160268535C= GRCh38
NC_000003.11:g.159986323C= , CM000665.1:g.159986323C= GRCh37
NC_000003.10:g.161469017C= NCBI36
NG_022932.1:g.135998G=

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.2101G= (IFT80) MANE Select NP_065851.1:p.Ala701=
ENST00000326448.12:c.2101G= (IFT80) MANE Select ENSP00000312778.7:p.Ala701=
NM_001190241.1:c.1690G= (IFT80) NP_001177170.1:p.Ala564=
NM_001190241.2:c.1690G= (IFT80) NP_001177170.1:p.Ala564=
NM_001190242.1:c.1690G= (IFT80) NP_001177171.1:p.Ala564=
NM_001190242.2:c.1690G= (IFT80) NP_001177171.1:p.Ala564=
NM_020800.2:c.2101G= (IFT80) NP_065851.1:p.Ala701=
NR_148401.1:n.2809G= (TRIM59-IFT80)
NR_148402.1:n.4345G= (TRIM59-IFT80)
NR_148403.1:n.4612G= (TRIM59-IFT80)
ENST00000326448.11:c.2101G= (IFT80) ENSP00000312778.7:p.Ala701=
ENST00000463240.1:n.249G= (IFT80)
ENST00000478278.1:n.227G= (IFT80)
ENST00000483465.5:c.1690G= (IFT80) ENSP00000418196.1:p.Ala564=
ENST00000483754.1:c.2614G= (TRIM59-IFT80) ENSP00000456272.1:p.Ala872=
ENST00000487943.5:n.3320G= (IFT80)
ENST00000496589.5:c.1690G= (IFT80) ENSP00000420646.1:p.Ala564=
XR_924137.1:n.2944+7621C= (C3orf80)
XR_924138.1:n.2900-21137C= (C3orf80)