Canonical Allele Identifier: CA6305604

Gene: IFT46 TMEM25

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118544962T>C , CM000673.2:g.118544962T>C	GRCh38
NC_000011.9:g.118415677T>C , CM000673.1:g.118415677T>C	GRCh37
NC_000011.8:g.117920887T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264021.8:c.869A>G (IFT46) MANE Select	ENSP00000264021.3:p.Asn290Ser
ENST00000672656.2:c.1022A>G (IFT46)	ENSP00000499950.2:p.Asn341Ser
ENST00000264020.6:c.1022A>G (IFT46)	ENSP00000264020.2:p.Asn341Ser
ENST00000264021.7:c.869A>G (IFT46)	ENSP00000264021.3:p.Asn290Ser
ENST00000354284.8:c.1028-1157T>C (TMEM25)	ENSP00000346237.4:n.1028-1157T>C
ENST00000442938.6:c.893-1157T>C (TMEM25)	ENSP00000416071.2:n.893-1157T>C
ENST00000530872.5:c.*42A>G (IFT46)	ENSP00000432384.1:n.*42A>G
ENST00000531201.5:n.1435A>G (IFT46)
NM_001144037.1:c.1028-1157T>C (TMEM25)	NP_001137509.1:n.1028-1157T>C
NM_001144038.1:c.893-1157T>C (TMEM25)	NP_001137510.1:n.893-1157T>C
NM_001168618.1:c.869A>G (IFT46)	NP_001162089.1:p.Asn290Ser
NM_020153.3:c.1022A>G (IFT46)	NP_064538.3:p.Asn341Ser
XM_011542905.1:c.1022A>G (IFT46)	XP_011541207.1:p.Asn341Ser
XM_011542906.1:c.869A>G (IFT46)	XP_011541208.1:p.Asn290Ser
XM_011542905.3:c.1022A>G (IFT46)	XP_011541207.1:p.Asn341Ser
XM_011542906.3:c.869A>G (IFT46)	XP_011541208.1:p.Asn290Ser
XM_017018017.1:c.1022A>G (IFT46)	XP_016873506.1:p.Asn341Ser
XM_017018018.2:c.869A>G (IFT46)	XP_016873507.1:p.Asn290Ser
NM_001144037.2:c.1028-1157T>C (TMEM25)	NP_001137509.1:n.1028-1157T>C
NM_001144038.2:c.893-1157T>C (TMEM25)	NP_001137510.1:n.893-1157T>C
NM_001168618.2:c.869A>G (IFT46) MANE Select	NP_001162089.1:p.Asn290Ser
NM_020153.4:c.1022A>G (IFT46)	NP_064538.3:p.Asn341Ser