Canonical Allele Identifier: CA9866926

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43613966A>G , CM000682.2:g.43613966A>G	GRCh38
NC_000020.10:g.42242606A>G , CM000682.1:g.42242606A>G	GRCh37
NC_000020.9:g.41676020A>G	NCBI36
NG_051913.1:g.28354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.602A>G MANE Select	ENSP00000362121.3:p.Tyr201Cys
ENST00000373030.7:c.602A>G	ENSP00000362121.3:p.Tyr201Cys
ENST00000373039.4:c.602A>G	ENSP00000362130.4:p.Tyr201Cys
ENST00000460014.1:n.1A>G
ENST00000467024.5:n.117A>G
ENST00000468420.5:n.68A>G
NM_001303458.1:c.602A>G	NP_001290387.1:p.Tyr201Cys
NM_001303459.1:c.602A>G	NP_001290388.1:p.Tyr201Cys
NM_016004.3:c.602A>G	NP_057088.2:p.Tyr201Cys
XM_011528840.1:c.74A>G	XP_011527142.1:p.Tyr25Cys
NM_001303458.2:c.602A>G	NP_001290387.1:p.Tyr201Cys
NM_001303459.2:c.602A>G	NP_001290388.1:p.Tyr201Cys
NM_001323578.1:c.74A>G	NP_001310507.1:p.Tyr25Cys
NM_001323579.1:c.-163A>G	NP_001310508.1:n.-163A>G
NM_001323580.1:c.74A>G	NP_001310509.1:p.Tyr25Cys
NM_001323581.1:c.-163A>G	NP_001310510.1:n.-163A>G
NM_016004.4:c.602A>G	NP_057088.2:p.Tyr201Cys
XM_017027863.2:c.-163A>G	XP_016883352.1:n.-163A>G
NM_001303458.3:c.602A>G	NP_001290387.1:p.Tyr201Cys
NM_001303459.3:c.602A>G	NP_001290388.1:p.Tyr201Cys
NM_001323578.2:c.74A>G	NP_001310507.1:p.Tyr25Cys
NM_001323579.2:c.-163A>G	NP_001310508.1:n.-163A>G
NM_001323580.2:c.74A>G	NP_001310509.1:p.Tyr25Cys
NM_001323581.2:c.-163A>G	NP_001310510.1:n.-163A>G
NM_016004.5:c.602A>G MANE Select	NP_057088.2:p.Tyr201Cys