Canonical Allele Identifier: CA371687846
Gene: TMEM67 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780663T>A , CM000670.2:g.93780663T>A GRCh38
NC_000008.10:g.94792891T>A , CM000670.1:g.94792891T>A GRCh37
NC_000008.9:g.94862067T>A NCBI36
NG_009190.1:g.30820T>A , LRG_688:g.30820T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.785T>A ENSP00000314488.4:p.Phe262Tyr
ENST00000409623.8:c.785T>A ENSP00000386966.4:p.Phe262Tyr
ENST00000452276.6:c.785T>A ENSP00000388671.2:p.Phe262Tyr
ENST00000453906.6:c.407-5560T>A ENSP00000403035.2:n.407-5560T>A
ENST00000520680.2:c.785T>A ENSP00000428785.2:p.Phe262Tyr
ENST00000521065.2:c.*502T>A ENSP00000427947.2:n.*502T>A
ENST00000521517.6:c.785T>A ENSP00000430740.2:p.Phe262Tyr
ENST00000681998.1:c.715T>A ENSP00000506773.1:n.715T>A
ENST00000682036.1:c.407-5560T>A ENSP00000508390.1:n.407-5560T>A
ENST00000682577.1:c.715T>A ENSP00000506963.1:n.715T>A
ENST00000682624.1:c.*359T>A ENSP00000508343.1:n.*359T>A
ENST00000682700.1:c.785T>A ENSP00000507627.1:p.Phe262Tyr
ENST00000682744.1:n.323T>A
ENST00000682804.1:n.608T>A
ENST00000682837.1:c.540T>A ENSP00000507920.1:p.Leu180=
ENST00000682935.1:n.2345T>A
ENST00000682984.1:c.446T>A ENSP00000507209.1:p.Phe149Tyr
ENST00000683078.1:c.540T>A ENSP00000506796.1:p.Leu180=
ENST00000683223.1:c.626T>A ENSP00000507685.1:n.626T>A
ENST00000683238.1:n.2166T>A
ENST00000683249.1:n.2366T>A
ENST00000683336.1:c.715T>A ENSP00000507695.1:n.715T>A
ENST00000683362.1:c.446T>A ENSP00000506985.1:p.Phe149Tyr
ENST00000683850.1:n.708T>A
ENST00000683919.1:c.715T>A ENSP00000507617.1:n.715T>A
ENST00000683953.1:c.696T>A ENSP00000508375.1:n.696T>A
ENST00000684023.1:c.919T>A ENSP00000507461.1:n.919T>A
ENST00000684064.1:c.476T>A ENSP00000508192.1:p.Phe159Tyr
ENST00000684089.1:n.2335T>A
ENST00000684149.1:c.*121T>A ENSP00000507943.1:n.*121T>A
ENST00000684416.1:n.744T>A
ENST00000684540.1:c.715T>A ENSP00000507987.1:n.715T>A
ENST00000453321.8:c.785T>A MANE Select ENSP00000389998.3:p.Phe262Tyr
ENST00000323130.7:c.755T>A ENSP00000314488.3:p.Phe252Tyr
ENST00000409623.7:c.542T>A ENSP00000386966.3:p.Phe181Tyr
ENST00000425545.2:n.232T>A
ENST00000452276.5:c.476T>A ENSP00000388671.1:p.Phe159Tyr
ENST00000453321.7:c.785T>A ENSP00000389998.3:p.Phe262Tyr
ENST00000453906.5:c.407-5560T>A ENSP00000403035.1:n.407-5560T>A
ENST00000474944.5:n.427-5560T>A
ENST00000496213.5:n.250T>A
NM_001142301.1:c.542T>A , LRG_688t2:c.542T>A NP_001135773.1:p.Phe181Tyr
NM_153704.5:c.785T>A , LRG_688t1:c.785T>A NP_714915.3:p.Phe262Tyr
NR_024522.1:n.856T>A
XM_006716686.2:c.482T>A XP_006716749.1:p.Phe161Tyr
XM_006716687.2:c.185T>A XP_006716750.1:p.Phe62Tyr
XM_011517363.1:c.407-5560T>A XP_011515665.1:n.407-5560T>A
XR_428387.1:n.843T>A
XR_928360.1:n.843T>A
XR_928361.1:n.843T>A
XR_928362.1:n.843T>A
XM_006716686.4:c.482T>A XP_006716749.1:p.Phe161Tyr
XM_011517363.3:c.407-5560T>A XP_011515665.1:n.407-5560T>A
XM_024447326.1:c.131T>A XP_024303094.1:p.Phe44Tyr
XR_001745619.2:n.826T>A
XR_428387.2:n.826T>A
XR_928360.3:n.826T>A
XR_928362.3:n.826T>A
NM_153704.6:c.785T>A MANE Select NP_714915.3:p.Phe262Tyr
NR_024522.2:n.806T>A