Canonical Allele Identifier: CA9866763

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43594822C>T , CM000682.2:g.43594822C>T	GRCh38
NC_000020.10:g.42223462C>T , CM000682.1:g.42223462C>T	GRCh37
NC_000020.9:g.41656876C>T	NCBI36
NG_051913.1:g.9210C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016004.5:c.119+5C>T MANE Select	NP_057088.2:n.119+5C>T
ENST00000373030.8:c.119+5C>T MANE Select	ENSP00000362121.3:n.119+5C>T
NM_001303458.1:c.119+5C>T	NP_001290387.1:n.119+5C>T
NM_001303458.2:c.119+5C>T	NP_001290387.1:n.119+5C>T
NM_001303458.3:c.119+5C>T	NP_001290387.1:n.119+5C>T
NM_001303459.1:c.119+5C>T	NP_001290388.1:n.119+5C>T
NM_001303459.2:c.119+5C>T	NP_001290388.1:n.119+5C>T
NM_001303459.3:c.119+5C>T	NP_001290388.1:n.119+5C>T
NM_001323578.1:c.-553+5C>T	NP_001310507.1:n.-553+5C>T
NM_001323578.2:c.-553+5C>T	NP_001310507.1:n.-553+5C>T
NM_001323579.1:c.-646+5C>T	NP_001310508.1:n.-646+5C>T
NM_001323579.2:c.-646+5C>T	NP_001310508.1:n.-646+5C>T
NM_001323580.1:c.-553+5C>T	NP_001310509.1:n.-553+5C>T
NM_001323580.2:c.-553+5C>T	NP_001310509.1:n.-553+5C>T
NM_001323581.1:c.-646+5C>T	NP_001310510.1:n.-646+5C>T
NM_001323581.2:c.-646+5C>T	NP_001310510.1:n.-646+5C>T
NM_016004.3:c.119+5C>T	NP_057088.2:n.119+5C>T
NM_016004.4:c.119+5C>T	NP_057088.2:n.119+5C>T
ENST00000373030.7:c.119+5C>T	ENSP00000362121.3:n.119+5C>T
ENST00000373039.4:c.119+5C>T	ENSP00000362130.4:n.119+5C>T
ENST00000486243.1:n.96+5C>T
XM_017027863.2:c.-789+5C>T	XP_016883352.1:n.-789+5C>T