Canonical Allele Identifier: CA4808285
Community Standard Title: NM_153704.6(TMEM67):c.2345A>G (p.His782Arg)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93804784A>G , CM000670.2:g.93804784A>G GRCh38
NC_000008.10:g.94817012A>G , CM000670.1:g.94817012A>G GRCh37
NC_000008.9:g.94886188A>G NCBI36
NG_009190.1:g.54941A>G , LRG_688:g.54941A>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2345A>G MANE Select NP_714915.3:p.His782Arg
ENST00000453321.8:c.2345A>G MANE Select ENSP00000389998.3:p.His782Arg
NM_001142301.1:c.2102A>G , LRG_688t2:c.2102A>G NP_001135773.1:p.His701Arg
NM_153704.5:c.2345A>G , LRG_688t1:c.2345A>G NP_714915.3:p.His782Arg
NR_024522.1:n.2416A>G
NR_024522.2:n.2366A>G
ENST00000323130.7:c.2315A>G ENSP00000314488.3:p.His772Arg
ENST00000323130.8:c.2345A>G ENSP00000314488.4:p.His782Arg
ENST00000409623.7:c.2102A>G ENSP00000386966.3:p.His701Arg
ENST00000409623.8:c.2300A>G ENSP00000386966.4:p.His767Arg
ENST00000452276.6:c.2322+1100A>G ENSP00000388671.2:n.2322+1100A>G
ENST00000453321.7:c.2345A>G ENSP00000389998.3:p.His782Arg
ENST00000453906.6:c.1463A>G ENSP00000403035.2:p.His488Arg
ENST00000474944.5:n.1483A>G
ENST00000518896.2:c.636A>G ENSP00000507992.1:n.636A>G
ENST00000519845.5:n.1077A>G
ENST00000520680.2:c.2468A>G ENSP00000428785.2:p.His823Arg
ENST00000521517.6:c.2246A>G ENSP00000430740.2:p.His749Arg
ENST00000681998.1:c.2166A>G ENSP00000506773.1:n.2166A>G
ENST00000682036.1:c.1586A>G ENSP00000508390.1:p.His529Arg
ENST00000682577.1:c.2118A>G ENSP00000506963.1:n.2118A>G
ENST00000682624.1:c.*1919A>G ENSP00000508343.1:n.*1919A>G
ENST00000682700.1:c.2345A>G ENSP00000507627.1:p.His782Arg
ENST00000682744.1:n.1883A>G
ENST00000682804.1:n.2168A>G
ENST00000682837.1:c.1834A>G ENSP00000507920.1:n.1834A>G
ENST00000682935.1:n.4395A>G
ENST00000682984.1:c.2006A>G ENSP00000507209.1:p.His669Arg
ENST00000683078.1:c.2100A>G ENSP00000506796.1:n.2100A>G
ENST00000683223.1:c.2077A>G ENSP00000507685.1:n.2077A>G
ENST00000683238.1:n.3569A>G
ENST00000683249.1:n.3942A>G
ENST00000683336.1:c.2166A>G ENSP00000507695.1:n.2166A>G
ENST00000683362.1:c.2006A>G ENSP00000506985.1:p.His669Arg
ENST00000683850.1:n.2268A>G
ENST00000683919.1:c.2275A>G ENSP00000507617.1:n.2275A>G
ENST00000683953.1:c.2256A>G ENSP00000508375.1:n.2256A>G
ENST00000684023.1:c.2322A>G ENSP00000507461.1:n.2322A>G
ENST00000684064.1:c.2036A>G ENSP00000508192.1:p.His679Arg
ENST00000684089.1:n.3895A>G
ENST00000684149.1:c.*1524A>G ENSP00000507943.1:n.*1524A>G
ENST00000684343.1:c.542A>G ENSP00000507591.1:p.His181Arg
ENST00000684416.1:n.2304A>G
ENST00000684540.1:c.2275A>G ENSP00000507987.1:n.2275A>G
XM_006716686.2:c.2042A>G XP_006716749.1:p.His681Arg
XM_006716686.4:c.2042A>G XP_006716749.1:p.His681Arg
XM_006716687.2:c.1745A>G XP_006716750.1:p.His582Arg
XM_011517363.1:c.1463A>G XP_011515665.1:p.His488Arg
XM_011517363.3:c.1463A>G XP_011515665.1:p.His488Arg
XM_024447326.1:c.1691A>G XP_024303094.1:p.His564Arg
XR_001745619.2:n.2386A>G
XR_428387.1:n.2403A>G
XR_428387.2:n.2386A>G
XR_928360.1:n.2403A>G
XR_928360.3:n.2386A>G
XR_928361.1:n.2403A>G
XR_928362.1:n.2403A>G
XR_928362.3:n.2386A>G