Canonical Allele Identifier: CA368637668

Gene: IFT22 EMSLR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101316466G>C , CM000669.2:g.101316466G>C	GRCh38
NC_000007.13:g.100959747G>C , CM000669.1:g.100959747G>C	GRCh37
NC_000007.12:g.100746467G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022777.4:c.283C>G (IFT22) MANE Select	NP_073614.1:p.His95Asp
ENST00000315322.10:c.283C>G (IFT22) MANE Select	ENSP00000320359.4:p.His95Asp
NM_001130820.2:c.193C>G (IFT22)	NP_001124292.1:p.His65Asp
NM_001130820.3:c.193C>G (IFT22)	NP_001124292.1:p.His65Asp
NM_001130821.2:c.52C>G (IFT22)	NP_001124293.1:p.His18Asp
NM_001130821.3:c.52C>G (IFT22)	NP_001124293.1:p.His18Asp
NM_001130822.2:c.52C>G (IFT22)	NP_001124294.1:p.His18Asp
NM_001130822.3:c.52C>G (IFT22)	NP_001124294.1:p.His18Asp
NM_001287525.1:c.52C>G (IFT22)	NP_001274454.1:p.His18Asp
NM_001287525.2:c.52C>G (IFT22)	NP_001274454.1:p.His18Asp
NM_001287526.1:c.52C>G (IFT22)	NP_001274455.1:p.His18Asp
NM_022777.3:c.283C>G (IFT22)	NP_073614.1:p.His95Asp
NR_110115.1:n.706-4649G>C (EMSLR)
ENST00000315322.8:c.283C>G (IFT22)	ENSP00000320359.4:p.His95Asp
ENST00000422177.5:c.283C>G (IFT22)	ENSP00000392087.1:p.His95Asp
ENST00000430911.5:c.*200C>G (IFT22)	ENSP00000389170.1:n.*200C>G
ENST00000437644.2:c.193C>G (IFT22)	ENSP00000390770.2:p.His65Asp
ENST00000440362.5:n.1106C>G (IFT22)
ENST00000468833.1:n.197C>G (IFT22)
ENST00000485695.1:n.282C>G (IFT22)
ENST00000495166.1:n.230C>G (IFT22)
ENST00000498704.6:c.52C>G (IFT22)	ENSP00000429648.1:p.His18Asp
ENST00000517481.5:c.52C>G (IFT22)	ENSP00000429202.1:p.His18Asp
ENST00000621899.4:c.52C>G (IFT22)	ENSP00000478948.1:p.His18Asp