Canonical Allele Identifier: CA371687761
Community Standard Title: NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780627G>A , CM000670.2:g.93780627G>A GRCh38
NC_000008.10:g.94792855G>A , CM000670.1:g.94792855G>A GRCh37
NC_000008.9:g.94862031G>A NCBI36
NG_009190.1:g.30784G>A , LRG_688:g.30784G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.749G>A MANE Select NP_714915.3:p.Gly250Glu
ENST00000453321.8:c.749G>A MANE Select ENSP00000389998.3:p.Gly250Glu
NM_001142301.1:c.506G>A , LRG_688t2:c.506G>A NP_001135773.1:p.Gly169Glu
NM_153704.5:c.749G>A , LRG_688t1:c.749G>A NP_714915.3:p.Gly250Glu
NR_024522.1:n.820G>A
NR_024522.2:n.770G>A
ENST00000323130.7:c.719G>A ENSP00000314488.3:p.Gly240Glu
ENST00000323130.8:c.749G>A ENSP00000314488.4:p.Gly250Glu
ENST00000409623.7:c.506G>A ENSP00000386966.3:p.Gly169Glu
ENST00000409623.8:c.749G>A ENSP00000386966.4:p.Gly250Glu
ENST00000425545.2:n.196G>A
ENST00000452276.5:c.440G>A ENSP00000388671.1:p.Gly147Glu
ENST00000452276.6:c.749G>A ENSP00000388671.2:p.Gly250Glu
ENST00000453321.7:c.749G>A ENSP00000389998.3:p.Gly250Glu
ENST00000453906.5:c.407-5596G>A ENSP00000403035.1:n.407-5596G>A
ENST00000453906.6:c.407-5596G>A ENSP00000403035.2:n.407-5596G>A
ENST00000474944.5:n.427-5596G>A
ENST00000496213.5:n.214G>A
ENST00000520680.2:c.749G>A ENSP00000428785.2:p.Gly250Glu
ENST00000521065.2:c.*466G>A ENSP00000427947.2:n.*466G>A
ENST00000521517.6:c.749G>A ENSP00000430740.2:p.Gly250Glu
ENST00000681998.1:c.679G>A ENSP00000506773.1:n.679G>A
ENST00000682036.1:c.407-5596G>A ENSP00000508390.1:n.407-5596G>A
ENST00000682577.1:c.679G>A ENSP00000506963.1:n.679G>A
ENST00000682624.1:c.*323G>A ENSP00000508343.1:n.*323G>A
ENST00000682700.1:c.749G>A ENSP00000507627.1:p.Gly250Glu
ENST00000682744.1:n.287G>A
ENST00000682804.1:n.572G>A
ENST00000682837.1:c.504G>A ENSP00000507920.1:p.Trp168Ter
ENST00000682935.1:n.2309G>A
ENST00000682984.1:c.410G>A ENSP00000507209.1:p.Gly137Glu
ENST00000683078.1:c.504G>A ENSP00000506796.1:p.Trp168Ter
ENST00000683223.1:c.590G>A ENSP00000507685.1:n.590G>A
ENST00000683238.1:n.2130G>A
ENST00000683249.1:n.2330G>A
ENST00000683336.1:c.679G>A ENSP00000507695.1:n.679G>A
ENST00000683362.1:c.410G>A ENSP00000506985.1:p.Gly137Glu
ENST00000683850.1:n.672G>A
ENST00000683919.1:c.679G>A ENSP00000507617.1:n.679G>A
ENST00000683953.1:c.660G>A ENSP00000508375.1:n.660G>A
ENST00000684023.1:c.883G>A ENSP00000507461.1:n.883G>A
ENST00000684064.1:c.440G>A ENSP00000508192.1:p.Gly147Glu
ENST00000684089.1:n.2299G>A
ENST00000684149.1:c.*85G>A ENSP00000507943.1:n.*85G>A
ENST00000684416.1:n.708G>A
ENST00000684540.1:c.679G>A ENSP00000507987.1:n.679G>A
XM_006716686.2:c.446G>A XP_006716749.1:p.Gly149Glu
XM_006716686.4:c.446G>A XP_006716749.1:p.Gly149Glu
XM_006716687.2:c.149G>A XP_006716750.1:p.Gly50Glu
XM_011517363.1:c.407-5596G>A XP_011515665.1:n.407-5596G>A
XM_011517363.3:c.407-5596G>A XP_011515665.1:n.407-5596G>A
XM_024447326.1:c.95G>A XP_024303094.1:p.Gly32Glu
XR_001745619.2:n.790G>A
XR_428387.1:n.807G>A
XR_428387.2:n.790G>A
XR_928360.1:n.807G>A
XR_928360.3:n.790G>A
XR_928361.1:n.807G>A
XR_928362.1:n.807G>A
XR_928362.3:n.790G>A