Canonical Allele Identifier: CA7280880

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76082643A>T , CM000676.2:g.76082643A>T	GRCh38
NC_000014.8:g.76548986A>T , CM000676.1:g.76548986A>T	GRCh37
NC_000014.7:g.75618739A>T	NCBI36
NG_031957.1:g.101891A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.395A>T MANE Select	NP_001096034.1:p.Tyr132Phe
ENST00000314067.11:c.395A>T MANE Select	ENSP00000324177.6:p.Tyr132Phe
NM_001102564.1:c.395A>T	NP_001096034.1:p.Tyr132Phe
NM_001102564.2:c.395A>T	NP_001096034.1:p.Tyr132Phe
NM_052873.2:c.410A>T	NP_443105.2:p.Tyr137Phe
NM_052873.3:c.410A>T	NP_443105.2:p.Tyr137Phe
NR_045664.1:n.349A>T
NR_045664.2:n.339A>T
NR_045665.1:n.429A>T
NR_045665.2:n.419A>T
ENST00000238628.10:c.410A>T	ENSP00000238628.6:p.Tyr137Phe
ENST00000314067.10:c.395A>T	ENSP00000324177.6:p.Tyr132Phe
ENST00000542766.5:c.395A>T	ENSP00000440064.1:p.Tyr132Phe
ENST00000554026.5:n.746A>T
ENST00000555305.5:n.651A>T
ENST00000679083.1:c.332A>T	ENSP00000504736.1:p.Tyr111Phe