Canonical Allele Identifier: CA314574770

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43620865T>G , CM000682.2:g.43620865T>G	GRCh38
NC_000020.10:g.42249505T>G , CM000682.1:g.42249505T>G	GRCh37
NC_000020.9:g.41682919T>G	NCBI36
NG_051913.1:g.35253T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.708T>G MANE Select	ENSP00000362121.3:p.Val236=
ENST00000373030.7:c.708T>G	ENSP00000362121.3:p.Val236=
ENST00000373039.4:c.708T>G	ENSP00000362130.4:p.Val236=
ENST00000460014.1:n.107T>G
ENST00000467024.5:n.223T>G
ENST00000468420.5:n.285T>G
NM_001303458.1:c.708T>G	NP_001290387.1:p.Val236=
NM_001303459.1:c.708T>G	NP_001290388.1:p.Val236=
NM_016004.3:c.708T>G	NP_057088.2:p.Val236=
XM_011528840.1:c.180T>G	XP_011527142.1:p.Val60=
XM_011528841.1:c.57T>G	XP_011527143.1:p.Val19=
NM_001303458.2:c.708T>G	NP_001290387.1:p.Val236=
NM_001303459.2:c.708T>G	NP_001290388.1:p.Val236=
NM_001323578.1:c.180T>G	NP_001310507.1:p.Val60=
NM_001323579.1:c.57T>G	NP_001310508.1:p.Val19=
NM_001323580.1:c.180T>G	NP_001310509.1:p.Val60=
NM_001323581.1:c.57T>G	NP_001310510.1:p.Val19=
NM_016004.4:c.708T>G	NP_057088.2:p.Val236=
XM_017027863.2:c.57T>G	XP_016883352.1:p.Val19=
NM_001303458.3:c.708T>G	NP_001290387.1:p.Val236=
NM_001303459.3:c.708T>G	NP_001290388.1:p.Val236=
NM_001323578.2:c.180T>G	NP_001310507.1:p.Val60=
NM_001323579.2:c.57T>G	NP_001310508.1:p.Val19=
NM_001323580.2:c.180T>G	NP_001310509.1:p.Val60=
NM_001323581.2:c.57T>G	NP_001310510.1:p.Val19=
NM_016004.5:c.708T>G MANE Select	NP_057088.2:p.Val236=