Canonical Allele Identifier: CA1803237398
Community Standard Title: NM_153704.6(TMEM67):c.2461G= (p.Gly821=)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93808861G= , CM000670.2:g.93808861G= GRCh38
NC_000008.10:g.94821089G= , CM000670.1:g.94821089G= GRCh37
NC_000008.9:g.94890265G= NCBI36
NG_009190.1:g.59018G= , LRG_688:g.59018G=

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2461G= MANE Select NP_714915.3:p.Gly821=
ENST00000453321.8:c.2461G= MANE Select ENSP00000389998.3:p.Gly821=
NM_001142301.1:c.2218G= , LRG_688t2:c.2218G= NP_001135773.1:p.Gly740=
NM_153704.5:c.2461G= , LRG_688t1:c.2461G= NP_714915.3:p.Gly821=
NR_024522.1:n.2532G=
NR_024522.2:n.2482G=
ENST00000323130.7:c.2431G= ENSP00000314488.3:p.Gly811=
ENST00000323130.8:c.2461G= ENSP00000314488.4:p.Gly821=
ENST00000409623.7:c.2218G= ENSP00000386966.3:p.Gly740=
ENST00000409623.8:c.2416G= ENSP00000386966.4:p.Gly806=
ENST00000452276.6:c.2344G= ENSP00000388671.2:p.Gly782=
ENST00000453321.7:c.2461G= ENSP00000389998.3:p.Gly821=
ENST00000453906.6:c.1579G= ENSP00000403035.2:p.Gly527=
ENST00000474944.5:n.1599G=
ENST00000518896.2:c.752G= ENSP00000507992.1:n.752G=
ENST00000519845.5:n.1193G=
ENST00000520680.2:c.2584G= ENSP00000428785.2:p.Gly862=
ENST00000521517.6:c.2362G= ENSP00000430740.2:p.Gly788=
ENST00000681998.1:c.2282G= ENSP00000506773.1:n.2282G=
ENST00000682036.1:c.1702G= ENSP00000508390.1:p.Gly568=
ENST00000682577.1:c.2234G= ENSP00000506963.1:n.2234G=
ENST00000682624.1:c.*2035G= ENSP00000508343.1:n.*2035G=
ENST00000682700.1:c.2461G= ENSP00000507627.1:p.Gly821=
ENST00000682744.1:n.1999G=
ENST00000682804.1:n.2284G=
ENST00000682837.1:c.1950G= ENSP00000507920.1:n.1950G=
ENST00000682935.1:n.4511G=
ENST00000682984.1:c.2122G= ENSP00000507209.1:p.Gly708=
ENST00000683078.1:c.2216G= ENSP00000506796.1:n.2216G=
ENST00000683223.1:c.2193G= ENSP00000507685.1:n.2193G=
ENST00000683238.1:n.3685G=
ENST00000683249.1:n.4058G=
ENST00000683336.1:c.2282G= ENSP00000507695.1:n.2282G=
ENST00000683362.1:c.2122G= ENSP00000506985.1:p.Gly708=
ENST00000683850.1:n.2384G=
ENST00000683919.1:c.2391G= ENSP00000507617.1:n.2391G=
ENST00000683953.1:c.2372G= ENSP00000508375.1:n.2372G=
ENST00000684023.1:c.2438G= ENSP00000507461.1:n.2438G=
ENST00000684064.1:c.2152G= ENSP00000508192.1:p.Gly718=
ENST00000684089.1:n.4011G=
ENST00000684149.1:c.*1640G= ENSP00000507943.1:n.*1640G=
ENST00000684343.1:c.658G= ENSP00000507591.1:p.Gly220=
ENST00000684416.1:n.2420G=
ENST00000684540.1:c.2391G= ENSP00000507987.1:n.2391G=
XM_006716686.2:c.2158G= XP_006716749.1:p.Gly720=
XM_006716686.4:c.2158G= XP_006716749.1:p.Gly720=
XM_006716687.2:c.1861G= XP_006716750.1:p.Gly621=
XM_011517363.1:c.1579G= XP_011515665.1:p.Gly527=
XM_011517363.3:c.1579G= XP_011515665.1:p.Gly527=
XM_024447326.1:c.1807G= XP_024303094.1:p.Gly603=
XR_001745619.2:n.2502G=
XR_428387.1:n.2519G=
XR_428387.2:n.2502G=
XR_928360.1:n.2519G=
XR_928360.3:n.2502G=
XR_928361.1:n.2519G=
XR_928362.1:n.2519G=
XR_928362.3:n.2502G=