Canonical Allele Identifier: CA355192503

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• MyVariant Identifiers: chr3:g.160000401T>A (hg19) ; chr3:g.160282613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282613T>A , CM000665.2:g.160282613T>A	GRCh38
NC_000003.11:g.160000401T>A , CM000665.1:g.160000401T>A	GRCh37
NC_000003.10:g.161483095T>A	NCBI36
NG_022932.1:g.121920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381A>T (IFT80) MANE Select	ENSP00000312778.7:p.Asn461Tyr
ENST00000326448.11:c.1381A>T (IFT80)	ENSP00000312778.7:p.Asn461Tyr
ENST00000483465.5:c.970A>T (IFT80)	ENSP00000418196.1:p.Asn324Tyr
ENST00000483754.1:c.1894A>T (TRIM59-IFT80)	ENSP00000456272.1:p.Asn632Tyr
ENST00000487943.5:n.2600A>T (IFT80)
ENST00000496589.5:c.970A>T (IFT80)	ENSP00000420646.1:p.Asn324Tyr
NM_001190241.1:c.970A>T (IFT80)	NP_001177170.1:p.Asn324Tyr
NM_001190242.1:c.970A>T (IFT80)	NP_001177171.1:p.Asn324Tyr
NM_020800.2:c.1381A>T (IFT80)	NP_065851.1:p.Asn461Tyr
XR_924138.1:n.2900-7059T>A (C3orf80)
NR_148401.1:n.2089A>T (TRIM59-IFT80)
NR_148402.1:n.3625A>T (TRIM59-IFT80)
NR_148403.1:n.3892A>T (TRIM59-IFT80)
NM_020800.3:c.1381A>T (IFT80) MANE Select	NP_065851.1:p.Asn461Tyr
NM_001190241.2:c.970A>T (IFT80)	NP_001177170.1:p.Asn324Tyr
NM_001190242.2:c.970A>T (IFT80)	NP_001177171.1:p.Asn324Tyr