Canonical Allele Identifier: CA9867057

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43635991C>T , CM000682.2:g.43635991C>T	GRCh38
NC_000020.10:g.42264631C>T , CM000682.1:g.42264631C>T	GRCh37
NC_000020.9:g.41698045C>T	NCBI36
NG_051913.1:g.50379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.989C>T MANE Select	ENSP00000362121.3:p.Pro330Leu
ENST00000373030.7:c.989C>T	ENSP00000362121.3:p.Pro330Leu
ENST00000373039.4:c.989C>T	ENSP00000362130.4:p.Pro330Leu
ENST00000468420.5:n.566C>T
NM_001303458.1:c.989C>T	NP_001290387.1:p.Pro330Leu
NM_001303459.1:c.989C>T	NP_001290388.1:p.Pro330Leu
NM_016004.3:c.989C>T	NP_057088.2:p.Pro330Leu
XM_011528840.1:c.461C>T	XP_011527142.1:p.Pro154Leu
XM_011528841.1:c.338C>T	XP_011527143.1:p.Pro113Leu
NM_001303458.2:c.989C>T	NP_001290387.1:p.Pro330Leu
NM_001303459.2:c.989C>T	NP_001290388.1:p.Pro330Leu
NM_001323578.1:c.461C>T	NP_001310507.1:p.Pro154Leu
NM_001323579.1:c.338C>T	NP_001310508.1:p.Pro113Leu
NM_001323580.1:c.461C>T	NP_001310509.1:p.Pro154Leu
NM_001323581.1:c.338C>T	NP_001310510.1:p.Pro113Leu
NM_016004.4:c.989C>T	NP_057088.2:p.Pro330Leu
XM_017027863.2:c.338C>T	XP_016883352.1:p.Pro113Leu
NM_001303458.3:c.989C>T	NP_001290387.1:p.Pro330Leu
NM_001303459.3:c.989C>T	NP_001290388.1:p.Pro330Leu
NM_001323578.2:c.461C>T	NP_001310507.1:p.Pro154Leu
NM_001323579.2:c.338C>T	NP_001310508.1:p.Pro113Leu
NM_001323580.2:c.461C>T	NP_001310509.1:p.Pro154Leu
NM_001323581.2:c.338C>T	NP_001310510.1:p.Pro113Leu
NM_016004.5:c.989C>T MANE Select	NP_057088.2:p.Pro330Leu