Canonical Allele Identifier: CA2685151592
Gene: IFT56 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139146861G>A , CM000669.2:g.139146861G>A GRCh38
NC_000007.13:g.138831607G>A , CM000669.1:g.138831607G>A GRCh37
NC_000007.12:g.138482147G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343187.8:c.307-284G>A ENSP00000339135.4:n.307-284G>A
ENST00000430935.5:c.400-284G>A ENSP00000410655.1:n.400-284G>A
ENST00000464848.5:c.400-284G>A MANE Select ENSP00000419279.1:n.400-284G>A
ENST00000468866.1:n.365-284G>A
ENST00000474035.6:c.400-284G>A ENSP00000443253.1:n.400-284G>A
ENST00000476296.1:c.400-123G>A ENSP00000419639.1:n.400-123G>A
ENST00000478836.6:c.399+4556G>A ENSP00000419178.2:n.399+4556G>A
ENST00000479132.5:n.411-123G>A
ENST00000481482.5:n.478-284G>A
ENST00000495038.5:c.399+4556G>A ENSP00000418788.1:n.399+4556G>A
NM_001144920.2:c.400-284G>A NP_001138392.1:n.400-284G>A
NM_001144923.2:c.307-284G>A NP_001138395.1:n.307-284G>A
NM_001287512.1:c.399+4556G>A NP_001274441.1:n.399+4556G>A
NM_001287513.1:c.85-284G>A NP_001274442.1:n.85-284G>A
NM_024926.3:c.400-284G>A NP_079202.2:n.400-284G>A
XM_005250608.3:c.-182-123G>A XP_005250665.1:n.-182-123G>A
XM_006716135.2:c.399+4556G>A XP_006716198.1:n.399+4556G>A
XM_011516584.1:c.400-284G>A XP_011514886.1:n.400-284G>A
NM_001318333.1:c.-182-123G>A NP_001305262.1:n.-182-123G>A
NM_001321740.1:c.400-284G>A NP_001308669.1:n.400-284G>A
NM_001321741.1:c.399+4556G>A NP_001308670.1:n.399+4556G>A
NM_001321742.1:c.400-284G>A NP_001308671.1:n.400-284G>A
NM_024926.4:c.400-284G>A MANE Select NP_079202.2:n.400-284G>A
NM_001144923.3:c.307-284G>A NP_001138395.1:n.307-284G>A
NM_001287512.2:c.399+4556G>A NP_001274441.1:n.399+4556G>A
NM_001287513.2:c.85-284G>A NP_001274442.1:n.85-284G>A
NM_001318333.2:c.-182-123G>A NP_001305262.1:n.-182-123G>A
NM_001321740.2:c.400-284G>A NP_001308669.1:n.400-284G>A
NM_001321741.2:c.399+4556G>A NP_001308670.1:n.399+4556G>A
NM_001144920.3:c.400-284G>A NP_001138392.1:n.400-284G>A
NM_001321742.2:c.400-284G>A NP_001308671.1:n.400-284G>A