Canonical Allele Identifier: CA314574785

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43620913T>C , CM000682.2:g.43620913T>C	GRCh38
NC_000020.10:g.42249553T>C , CM000682.1:g.42249553T>C	GRCh37
NC_000020.9:g.41682967T>C	NCBI36
NG_051913.1:g.35301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.756T>C MANE Select	ENSP00000362121.3:p.Ala252=
ENST00000373030.7:c.756T>C	ENSP00000362121.3:p.Ala252=
ENST00000373039.4:c.756T>C	ENSP00000362130.4:p.Ala252=
ENST00000460014.1:n.155T>C
ENST00000467024.5:n.271T>C
ENST00000468420.5:n.333T>C
NM_001303458.1:c.756T>C	NP_001290387.1:p.Ala252=
NM_001303459.1:c.756T>C	NP_001290388.1:p.Ala252=
NM_016004.3:c.756T>C	NP_057088.2:p.Ala252=
XM_011528840.1:c.228T>C	XP_011527142.1:p.Ala76=
XM_011528841.1:c.105T>C	XP_011527143.1:p.Ala35=
NM_001303458.2:c.756T>C	NP_001290387.1:p.Ala252=
NM_001303459.2:c.756T>C	NP_001290388.1:p.Ala252=
NM_001323578.1:c.228T>C	NP_001310507.1:p.Ala76=
NM_001323579.1:c.105T>C	NP_001310508.1:p.Ala35=
NM_001323580.1:c.228T>C	NP_001310509.1:p.Ala76=
NM_001323581.1:c.105T>C	NP_001310510.1:p.Ala35=
NM_016004.4:c.756T>C	NP_057088.2:p.Ala252=
XM_017027863.2:c.105T>C	XP_016883352.1:p.Ala35=
NM_001303458.3:c.756T>C	NP_001290387.1:p.Ala252=
NM_001303459.3:c.756T>C	NP_001290388.1:p.Ala252=
NM_001323578.2:c.228T>C	NP_001310507.1:p.Ala76=
NM_001323579.2:c.105T>C	NP_001310508.1:p.Ala35=
NM_001323580.2:c.228T>C	NP_001310509.1:p.Ala76=
NM_001323581.2:c.105T>C	NP_001310510.1:p.Ala35=
NM_016004.5:c.756T>C MANE Select	NP_057088.2:p.Ala252=