Canonical Allele Identifier: CA368633688

Gene: IFT22 EMSLR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101318204T>G , CM000669.2:g.101318204T>G	GRCh38
NC_000007.13:g.100961485T>G , CM000669.1:g.100961485T>G	GRCh37
NC_000007.12:g.100748205T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022777.4:c.126A>C (IFT22) MANE Select	NP_073614.1:p.Glu42Asp
ENST00000315322.10:c.126A>C (IFT22) MANE Select	ENSP00000320359.4:p.Glu42Asp
NM_001130820.2:c.116+752A>C (IFT22)	NP_001124292.1:n.116+752A>C
NM_001130820.3:c.116+752A>C (IFT22)	NP_001124292.1:n.116+752A>C
NM_001130821.2:c.-106A>C (IFT22)	NP_001124293.1:n.-106A>C
NM_001130821.3:c.-106A>C (IFT22)	NP_001124293.1:n.-106A>C
NM_001130822.2:c.-106A>C (IFT22)	NP_001124294.1:n.-106A>C
NM_001130822.3:c.-106A>C (IFT22)	NP_001124294.1:n.-106A>C
NM_001287525.1:c.-106A>C (IFT22)	NP_001274454.1:n.-106A>C
NM_001287525.2:c.-106A>C (IFT22)	NP_001274454.1:n.-106A>C
NM_001287526.1:c.-25-1662A>C (IFT22)	NP_001274455.1:n.-25-1662A>C
NM_022777.3:c.126A>C (IFT22)	NP_073614.1:p.Glu42Asp
NR_110115.1:n.706-2911T>G (EMSLR)
ENST00000315322.8:c.126A>C (IFT22)	ENSP00000320359.4:p.Glu42Asp
ENST00000422177.5:c.126A>C (IFT22)	ENSP00000392087.1:p.Glu42Asp
ENST00000430911.5:c.*43A>C (IFT22)	ENSP00000389170.1:n.*43A>C
ENST00000437644.2:c.116+752A>C (IFT22)	ENSP00000390770.2:n.116+752A>C
ENST00000440362.5:n.949A>C (IFT22)
ENST00000468833.1:n.121-1662A>C (IFT22)
ENST00000485695.1:n.125A>C (IFT22)
ENST00000495166.1:n.154-1662A>C (IFT22)
ENST00000498704.6:c.-106A>C (IFT22)	ENSP00000429648.1:n.-106A>C
ENST00000517481.5:c.-106A>C (IFT22)	ENSP00000429202.1:n.-106A>C
ENST00000621899.4:c.-25-1662A>C (IFT22)	ENSP00000478948.1:n.-25-1662A>C