Canonical Allele Identifier: CA9866823

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43603885T>C , CM000682.2:g.43603885T>C	GRCh38
NC_000020.10:g.42232525T>C , CM000682.1:g.42232525T>C	GRCh37
NC_000020.9:g.41665939T>C	NCBI36
NG_051913.1:g.18273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.333T>C MANE Select	ENSP00000362121.3:p.Asn111=
ENST00000373030.7:c.333T>C	ENSP00000362121.3:p.Asn111=
ENST00000373039.4:c.333T>C	ENSP00000362130.4:p.Asn111=
ENST00000476986.1:n.12T>C
ENST00000486243.1:n.185-1117T>C
NM_001303458.1:c.333T>C	NP_001290387.1:p.Asn111=
NM_001303459.1:c.333T>C	NP_001290388.1:p.Asn111=
NM_016004.3:c.333T>C	NP_057088.2:p.Asn111=
NM_001303458.2:c.333T>C	NP_001290387.1:p.Asn111=
NM_001303459.2:c.333T>C	NP_001290388.1:p.Asn111=
NM_001323578.1:c.-339T>C	NP_001310507.1:n.-339T>C
NM_001323579.1:c.-432T>C	NP_001310508.1:n.-432T>C
NM_001323580.1:c.-339T>C	NP_001310509.1:n.-339T>C
NM_001323581.1:c.-432T>C	NP_001310510.1:n.-432T>C
NM_016004.4:c.333T>C	NP_057088.2:p.Asn111=
XM_017027863.2:c.-575T>C	XP_016883352.1:n.-575T>C
NM_001303458.3:c.333T>C	NP_001290387.1:p.Asn111=
NM_001303459.3:c.333T>C	NP_001290388.1:p.Asn111=
NM_001323578.2:c.-339T>C	NP_001310507.1:n.-339T>C
NM_001323579.2:c.-432T>C	NP_001310508.1:n.-432T>C
NM_001323580.2:c.-339T>C	NP_001310509.1:n.-339T>C
NM_001323581.2:c.-432T>C	NP_001310510.1:n.-432T>C
NM_016004.5:c.333T>C MANE Select	NP_057088.2:p.Asn111=