Canonical Allele Identifier: CA510568865

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43603777A>G , CM000682.2:g.43603777A>G	GRCh38
NC_000020.10:g.42232417A>G , CM000682.1:g.42232417A>G	GRCh37
NC_000020.9:g.41665831A>G	NCBI36
NG_051913.1:g.18165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.225A>G MANE Select	ENSP00000362121.3:p.Lys75=
ENST00000373030.7:c.225A>G	ENSP00000362121.3:p.Lys75=
ENST00000373039.4:c.225A>G	ENSP00000362130.4:p.Lys75=
ENST00000486243.1:n.185-1225A>G
NM_001303458.1:c.225A>G	NP_001290387.1:p.Lys75=
NM_001303459.1:c.225A>G	NP_001290388.1:p.Lys75=
NM_016004.3:c.225A>G	NP_057088.2:p.Lys75=
NM_001303458.2:c.225A>G	NP_001290387.1:p.Lys75=
NM_001303459.2:c.225A>G	NP_001290388.1:p.Lys75=
NM_001323578.1:c.-447A>G	NP_001310507.1:n.-447A>G
NM_001323579.1:c.-540A>G	NP_001310508.1:n.-540A>G
NM_001323580.1:c.-447A>G	NP_001310509.1:n.-447A>G
NM_001323581.1:c.-540A>G	NP_001310510.1:n.-540A>G
NM_016004.4:c.225A>G	NP_057088.2:p.Lys75=
XM_017027863.2:c.-683A>G	XP_016883352.1:n.-683A>G
NM_001303458.3:c.225A>G	NP_001290387.1:p.Lys75=
NM_001303459.3:c.225A>G	NP_001290388.1:p.Lys75=
NM_001323578.2:c.-447A>G	NP_001310507.1:n.-447A>G
NM_001323579.2:c.-540A>G	NP_001310508.1:n.-540A>G
NM_001323580.2:c.-447A>G	NP_001310509.1:n.-447A>G
NM_001323581.2:c.-540A>G	NP_001310510.1:n.-540A>G
NM_016004.5:c.225A>G MANE Select	NP_057088.2:p.Lys75=