Canonical Allele Identifier: CA355193837

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160301047C>G , CM000665.2:g.160301047C>G	GRCh38
NC_000003.11:g.160018835C>G , CM000665.1:g.160018835C>G	GRCh37
NC_000003.10:g.161501529C>G	NCBI36
NG_022932.1:g.103486G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.1152-1G>C (IFT80) MANE Select	NP_065851.1:n.1152-1G>C
ENST00000326448.12:c.1152-1G>C (IFT80) MANE Select	ENSP00000312778.7:n.1152-1G>C
NM_001190241.1:c.741-1G>C (IFT80)	NP_001177170.1:n.741-1G>C
NM_001190241.2:c.741-1G>C (IFT80)	NP_001177170.1:n.741-1G>C
NM_001190242.1:c.741-1G>C (IFT80)	NP_001177171.1:n.741-1G>C
NM_001190242.2:c.741-1G>C (IFT80)	NP_001177171.1:n.741-1G>C
NM_020800.2:c.1152-1G>C (IFT80)	NP_065851.1:n.1152-1G>C
NR_148401.1:n.1860-1G>C (TRIM59-IFT80)
NR_148402.1:n.3396-1G>C (TRIM59-IFT80)
NR_148403.1:n.3663-1G>C (TRIM59-IFT80)
ENST00000326448.11:c.1152-1G>C (IFT80)	ENSP00000312778.7:n.1152-1G>C
ENST00000483325.1:c.195-1G>C (IFT80)	ENSP00000417552.1:n.195-1G>C
ENST00000483465.5:c.741-1G>C (IFT80)	ENSP00000418196.1:n.741-1G>C
ENST00000483754.1:c.1665-1G>C (TRIM59-IFT80)	ENSP00000456272.1:n.1665-1G>C
ENST00000487943.5:n.2371-1G>C (IFT80)
ENST00000496589.5:c.741-1G>C (IFT80)	ENSP00000420646.1:n.741-1G>C