Canonical Allele Identifier: CA1746974423

Gene: IFT56

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139166872G= , CM000669.2:g.139166872G=	GRCh38
NC_000007.13:g.138851618G= , CM000669.1:g.138851618G=	GRCh37
NC_000007.12:g.138502158G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024926.4:c.928G= MANE Select	NP_079202.2:p.Asp310=
ENST00000464848.5:c.928G= MANE Select	ENSP00000419279.1:p.Asp310=
NM_001144920.2:c.928G=	NP_001138392.1:p.Asp310=
NM_001144920.3:c.928G=	NP_001138392.1:p.Asp310=
NM_001144923.2:c.835G=	NP_001138395.1:p.Asp279=
NM_001144923.3:c.835G=	NP_001138395.1:p.Asp279=
NM_001287512.1:c.535G=	NP_001274441.1:p.Asp179=
NM_001287512.2:c.535G=	NP_001274441.1:p.Asp179=
NM_001287513.1:c.613G=	NP_001274442.1:p.Asp205=
NM_001287513.2:c.613G=	NP_001274442.1:p.Asp205=
NM_001318333.1:c.508G=	NP_001305262.1:p.Asp170=
NM_001318333.2:c.508G=	NP_001305262.1:p.Asp170=
NM_001321740.1:c.928G=	NP_001308669.1:p.Asp310=
NM_001321740.2:c.928G=	NP_001308669.1:p.Asp310=
NM_001321741.1:c.610G=	NP_001308670.1:p.Asp204=
NM_001321741.2:c.610G=	NP_001308670.1:p.Asp204=
NM_024926.3:c.928G=	NP_079202.2:p.Asp310=
ENST00000343187.8:c.835G=	ENSP00000339135.4:p.Asp279=
ENST00000430935.5:c.928G=	ENSP00000410655.1:p.Asp310=
ENST00000476296.1:c.*681G=	ENSP00000419639.1:n.*681G=
ENST00000478836.6:c.607G=	ENSP00000419178.2:p.Asp203=
ENST00000481482.5:n.1006G=
ENST00000495038.5:c.535G=	ENSP00000418788.1:p.Asp179=
XM_005250608.3:c.508G=	XP_005250665.1:p.Asp170=
XM_006716135.2:c.610G=	XP_006716198.1:p.Asp204=
XM_011516584.1:c.928G=	XP_011514886.1:p.Asp310=