Canonical Allele Identifier: CA409084888

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43618976C>T , CM000682.2:g.43618976C>T	GRCh38
NC_000020.10:g.42247616C>T , CM000682.1:g.42247616C>T	GRCh37
NC_000020.9:g.41681030C>T	NCBI36
NG_051913.1:g.33364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.649C>T MANE Select	ENSP00000362121.3:p.His217Tyr
ENST00000373030.7:c.649C>T	ENSP00000362121.3:p.His217Tyr
ENST00000373039.4:c.649C>T	ENSP00000362130.4:p.His217Tyr
ENST00000460014.1:n.48C>T
ENST00000467024.5:n.164C>T
ENST00000468420.5:n.226C>T
NM_001303458.1:c.649C>T	NP_001290387.1:p.His217Tyr
NM_001303459.1:c.649C>T	NP_001290388.1:p.His217Tyr
NM_016004.3:c.649C>T	NP_057088.2:p.His217Tyr
XM_011528840.1:c.121C>T	XP_011527142.1:p.His41Tyr
XM_011528841.1:c.-3C>T	XP_011527143.1:n.-3C>T
NM_001303458.2:c.649C>T	NP_001290387.1:p.His217Tyr
NM_001303459.2:c.649C>T	NP_001290388.1:p.His217Tyr
NM_001323578.1:c.121C>T	NP_001310507.1:p.His41Tyr
NM_001323579.1:c.-3C>T	NP_001310508.1:n.-3C>T
NM_001323580.1:c.121C>T	NP_001310509.1:p.His41Tyr
NM_001323581.1:c.-3C>T	NP_001310510.1:n.-3C>T
NM_016004.4:c.649C>T	NP_057088.2:p.His217Tyr
XM_017027863.2:c.-3C>T	XP_016883352.1:n.-3C>T
NM_001303458.3:c.649C>T	NP_001290387.1:p.His217Tyr
NM_001303459.3:c.649C>T	NP_001290388.1:p.His217Tyr
NM_001323578.2:c.121C>T	NP_001310507.1:p.His41Tyr
NM_001323579.2:c.-3C>T	NP_001310508.1:n.-3C>T
NM_001323580.2:c.121C>T	NP_001310509.1:p.His41Tyr
NM_001323581.2:c.-3C>T	NP_001310510.1:n.-3C>T
NM_016004.5:c.649C>T MANE Select	NP_057088.2:p.His217Tyr