Canonical Allele Identifier: CA2365400475

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43624055T>A , CM000682.2:g.43624055T>A	GRCh38
NC_000020.10:g.42252695T>A , CM000682.1:g.42252695T>A	GRCh37
NC_000020.9:g.41686109T>A	NCBI36
NG_051913.1:g.38443T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016004.5:c.923+10T>A MANE Select	NP_057088.2:n.923+10T>A
ENST00000373030.8:c.923+10T>A MANE Select	ENSP00000362121.3:n.923+10T>A
NM_001303458.1:c.923+10T>A	NP_001290387.1:n.923+10T>A
NM_001303458.2:c.923+10T>A	NP_001290387.1:n.923+10T>A
NM_001303458.3:c.923+10T>A	NP_001290387.1:n.923+10T>A
NM_001303459.1:c.923+10T>A	NP_001290388.1:n.923+10T>A
NM_001303459.2:c.923+10T>A	NP_001290388.1:n.923+10T>A
NM_001303459.3:c.923+10T>A	NP_001290388.1:n.923+10T>A
NM_001323578.1:c.395+10T>A	NP_001310507.1:n.395+10T>A
NM_001323578.2:c.395+10T>A	NP_001310507.1:n.395+10T>A
NM_001323579.1:c.272+10T>A	NP_001310508.1:n.272+10T>A
NM_001323579.2:c.272+10T>A	NP_001310508.1:n.272+10T>A
NM_001323580.1:c.395+10T>A	NP_001310509.1:n.395+10T>A
NM_001323580.2:c.395+10T>A	NP_001310509.1:n.395+10T>A
NM_001323581.1:c.272+10T>A	NP_001310510.1:n.272+10T>A
NM_001323581.2:c.272+10T>A	NP_001310510.1:n.272+10T>A
NM_016004.3:c.923+10T>A	NP_057088.2:n.923+10T>A
NM_016004.4:c.923+10T>A	NP_057088.2:n.923+10T>A
ENST00000373030.7:c.923+10T>A	ENSP00000362121.3:n.923+10T>A
ENST00000373039.4:c.923+10T>A	ENSP00000362130.4:n.923+10T>A
ENST00000467024.5:n.448T>A
ENST00000468420.5:n.500+10T>A
XM_011528840.1:c.395+10T>A	XP_011527142.1:n.395+10T>A
XM_011528841.1:c.272+10T>A	XP_011527143.1:n.272+10T>A
XM_017027863.2:c.272+10T>A	XP_016883352.1:n.272+10T>A