Canonical Allele Identifier: CA9867032

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43624038G>A , CM000682.2:g.43624038G>A	GRCh38
NC_000020.10:g.42252678G>A , CM000682.1:g.42252678G>A	GRCh37
NC_000020.9:g.41686092G>A	NCBI36
NG_051913.1:g.38426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.916G>A MANE Select	ENSP00000362121.3:p.Val306Ile
ENST00000373030.7:c.916G>A	ENSP00000362121.3:p.Val306Ile
ENST00000373039.4:c.916G>A	ENSP00000362130.4:p.Val306Ile
ENST00000467024.5:n.431G>A
ENST00000468420.5:n.493G>A
NM_001303458.1:c.916G>A	NP_001290387.1:p.Val306Ile
NM_001303459.1:c.916G>A	NP_001290388.1:p.Val306Ile
NM_016004.3:c.916G>A	NP_057088.2:p.Val306Ile
XM_011528840.1:c.388G>A	XP_011527142.1:p.Val130Ile
XM_011528841.1:c.265G>A	XP_011527143.1:p.Val89Ile
NM_001303458.2:c.916G>A	NP_001290387.1:p.Val306Ile
NM_001303459.2:c.916G>A	NP_001290388.1:p.Val306Ile
NM_001323578.1:c.388G>A	NP_001310507.1:p.Val130Ile
NM_001323579.1:c.265G>A	NP_001310508.1:p.Val89Ile
NM_001323580.1:c.388G>A	NP_001310509.1:p.Val130Ile
NM_001323581.1:c.265G>A	NP_001310510.1:p.Val89Ile
NM_016004.4:c.916G>A	NP_057088.2:p.Val306Ile
XM_017027863.2:c.265G>A	XP_016883352.1:p.Val89Ile
NM_001303458.3:c.916G>A	NP_001290387.1:p.Val306Ile
NM_001303459.3:c.916G>A	NP_001290388.1:p.Val306Ile
NM_001323578.2:c.388G>A	NP_001310507.1:p.Val130Ile
NM_001323579.2:c.265G>A	NP_001310508.1:p.Val89Ile
NM_001323580.2:c.388G>A	NP_001310509.1:p.Val130Ile
NM_001323581.2:c.265G>A	NP_001310510.1:p.Val89Ile
NM_016004.5:c.916G>A MANE Select	NP_057088.2:p.Val306Ile