Canonical Allele Identifier: CA436487679

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• MyVariant Identifiers: chr3:g.160000324T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282536T>C , CM000665.2:g.160282536T>C	GRCh38
NC_000003.11:g.160000324T>C , CM000665.1:g.160000324T>C	GRCh37
NC_000003.10:g.161483018T>C	NCBI36
NG_022932.1:g.121997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1458A>G (IFT80) MANE Select	ENSP00000312778.7:p.Arg486=
ENST00000326448.11:c.1458A>G (IFT80)	ENSP00000312778.7:p.Arg486=
ENST00000483465.5:c.1047A>G (IFT80)	ENSP00000418196.1:p.Arg349=
ENST00000483754.1:c.1971A>G (TRIM59-IFT80)	ENSP00000456272.1:p.Arg657=
ENST00000487943.5:n.2677A>G (IFT80)
ENST00000496589.5:c.1047A>G (IFT80)	ENSP00000420646.1:p.Arg349=
NM_001190241.1:c.1047A>G (IFT80)	NP_001177170.1:p.Arg349=
NM_001190242.1:c.1047A>G (IFT80)	NP_001177171.1:p.Arg349=
NM_020800.2:c.1458A>G (IFT80)	NP_065851.1:p.Arg486=
XR_924138.1:n.2900-7136T>C (C3orf80)
NR_148401.1:n.2166A>G (TRIM59-IFT80)
NR_148402.1:n.3702A>G (TRIM59-IFT80)
NR_148403.1:n.3969A>G (TRIM59-IFT80)
NM_020800.3:c.1458A>G (IFT80) MANE Select	NP_065851.1:p.Arg486=
NM_001190241.2:c.1047A>G (IFT80)	NP_001177170.1:p.Arg349=
NM_001190242.2:c.1047A>G (IFT80)	NP_001177171.1:p.Arg349=