Canonical Allele Identifier: CA10586310

Gene: IFT52

Linked Data

• ClinVar Variation Id: 253307
• ClinVar RCV Id: RCV000240373 ; RCV000755169
• dbSNP Id: rs886037869
• gnomAD v2: 20-42242599-G-A
• gnomAD v3: 20-43613959-G-A
• gnomAD v4: 20-43613959-G-A
• MyVariant Identifiers: chr20:g.42242599G>A (hg19) ; chr20:g.43613959G>A (hg38)
• PubMed: PMID:27466190

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43613959G>A , CM000682.2:g.43613959G>A	GRCh38
NC_000020.10:g.42242599G>A , CM000682.1:g.42242599G>A	GRCh37
NC_000020.9:g.41676013G>A	NCBI36
NG_051913.1:g.28347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.595G>A MANE Select	ENSP00000362121.3:p.Ala199Thr
ENST00000373030.7:c.595G>A	ENSP00000362121.3:p.Ala199Thr
ENST00000373039.4:c.595G>A	ENSP00000362130.4:p.Ala199Thr
ENST00000467024.5:n.110G>A
ENST00000468420.5:n.61G>A
NM_001303458.1:c.595G>A	NP_001290387.1:p.Ala199Thr
NM_001303459.1:c.595G>A	NP_001290388.1:p.Ala199Thr
NM_016004.3:c.595G>A	NP_057088.2:p.Ala199Thr
XM_011528840.1:c.67G>A	XP_011527142.1:p.Ala23Thr
NM_001303458.2:c.595G>A	NP_001290387.1:p.Ala199Thr
NM_001303459.2:c.595G>A	NP_001290388.1:p.Ala199Thr
NM_001323578.1:c.67G>A	NP_001310507.1:p.Ala23Thr
NM_001323579.1:c.-170G>A	NP_001310508.1:n.-170G>A
NM_001323580.1:c.67G>A	NP_001310509.1:p.Ala23Thr
NM_001323581.1:c.-170G>A	NP_001310510.1:n.-170G>A
NM_016004.4:c.595G>A	NP_057088.2:p.Ala199Thr
XM_017027863.2:c.-170G>A	XP_016883352.1:n.-170G>A
NM_001303458.3:c.595G>A	NP_001290387.1:p.Ala199Thr
NM_001303459.3:c.595G>A	NP_001290388.1:p.Ala199Thr
NM_001323578.2:c.67G>A	NP_001310507.1:p.Ala23Thr
NM_001323579.2:c.-170G>A	NP_001310508.1:n.-170G>A
NM_001323580.2:c.67G>A	NP_001310509.1:p.Ala23Thr
NM_001323581.2:c.-170G>A	NP_001310510.1:n.-170G>A
NM_016004.5:c.595G>A MANE Select	NP_057088.2:p.Ala199Thr