Canonical Allele Identifier: CA2685421

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160357484T>C , CM000665.2:g.160357484T>C	GRCh38
NC_000003.11:g.160075272T>C , CM000665.1:g.160075272T>C	GRCh37
NC_000003.10:g.161557966T>C	NCBI36
NG_022932.1:g.47049A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.639+5A>G (IFT80) MANE Select	NP_065851.1:n.639+5A>G
ENST00000326448.12:c.639+5A>G (IFT80) MANE Select	ENSP00000312778.7:n.639+5A>G
NM_001190241.1:c.228+5A>G (IFT80)	NP_001177170.1:n.228+5A>G
NM_001190241.2:c.228+5A>G (IFT80)	NP_001177170.1:n.228+5A>G
NM_001190242.1:c.228+5A>G (IFT80)	NP_001177171.1:n.228+5A>G
NM_001190242.2:c.228+5A>G (IFT80)	NP_001177171.1:n.228+5A>G
NM_020800.2:c.639+5A>G (IFT80)	NP_065851.1:n.639+5A>G
NR_148401.1:n.1347+5A>G (TRIM59-IFT80)
NR_148402.1:n.2883+5A>G (TRIM59-IFT80)
NR_148403.1:n.3150+5A>G (TRIM59-IFT80)
ENST00000326448.11:c.639+5A>G (IFT80)	ENSP00000312778.7:n.639+5A>G
ENST00000465537.5:c.228+5A>G (IFT80)	ENSP00000418602.1:n.228+5A>G
ENST00000472555.5:c.11+5A>G (IFT80)
ENST00000478460.5:n.346+5A>G (IFT80)
ENST00000483465.5:c.228+5A>G (IFT80)	ENSP00000418196.1:n.228+5A>G
ENST00000483754.1:c.1152+5A>G (TRIM59-IFT80)	ENSP00000456272.1:n.1152+5A>G
ENST00000484963.5:c.244+5A>G (IFT80)	ENSP00000420260.1:n.244+5A>G
ENST00000487943.5:n.1858+5A>G (IFT80)
ENST00000496589.5:c.228+5A>G (IFT80)	ENSP00000420646.1:n.228+5A>G