Canonical Allele Identifier: CA1803221483
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780724C= , CM000670.2:g.93780724C= GRCh38
NC_000008.10:g.94792952C= , CM000670.1:g.94792952C= GRCh37
NC_000008.9:g.94862128C= NCBI36
NG_009190.1:g.30881C= , LRG_688:g.30881C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.846C= ENSP00000314488.4:p.Ser282=
ENST00000409623.8:c.846C= ENSP00000386966.4:p.Ser282=
ENST00000452276.6:c.846C= ENSP00000388671.2:p.Ser282=
ENST00000453906.6:c.407-5499C= ENSP00000403035.2:n.407-5499C=
ENST00000520680.2:c.846C= ENSP00000428785.2:p.Ser282=
ENST00000521065.2:c.*563C= ENSP00000427947.2:n.*563C=
ENST00000521517.6:c.846C= ENSP00000430740.2:p.Ser282=
ENST00000681998.1:c.776C= ENSP00000506773.1:n.776C=
ENST00000682036.1:c.407-5499C= ENSP00000508390.1:n.407-5499C=
ENST00000682577.1:c.776C= ENSP00000506963.1:n.776C=
ENST00000682624.1:c.*420C= ENSP00000508343.1:n.*420C=
ENST00000682700.1:c.846C= ENSP00000507627.1:p.Ser282=
ENST00000682744.1:n.384C=
ENST00000682804.1:n.669C=
ENST00000682837.1:c.601C= ENSP00000507920.1:n.601C=
ENST00000682935.1:n.2406C=
ENST00000682984.1:c.507C= ENSP00000507209.1:p.Ser169=
ENST00000683078.1:c.601C= ENSP00000506796.1:n.601C=
ENST00000683223.1:c.687C= ENSP00000507685.1:n.687C=
ENST00000683238.1:n.2227C=
ENST00000683249.1:n.2427C=
ENST00000683336.1:c.776C= ENSP00000507695.1:n.776C=
ENST00000683362.1:c.507C= ENSP00000506985.1:p.Ser169=
ENST00000683850.1:n.769C=
ENST00000683919.1:c.776C= ENSP00000507617.1:n.776C=
ENST00000683953.1:c.757C= ENSP00000508375.1:n.757C=
ENST00000684023.1:c.980C= ENSP00000507461.1:n.980C=
ENST00000684064.1:c.537C= ENSP00000508192.1:p.Ser179=
ENST00000684089.1:n.2396C=
ENST00000684149.1:c.*182C= ENSP00000507943.1:n.*182C=
ENST00000684416.1:n.805C=
ENST00000684540.1:c.776C= ENSP00000507987.1:n.776C=
ENST00000453321.8:c.846C= MANE Select ENSP00000389998.3:p.Ser282=
ENST00000323130.7:c.816C= ENSP00000314488.3:p.Ser272=
ENST00000409623.7:c.603C= ENSP00000386966.3:p.Ser201=
ENST00000425545.2:n.293C=
ENST00000452276.5:c.537C= ENSP00000388671.1:p.Ser179=
ENST00000453321.7:c.846C= ENSP00000389998.3:p.Ser282=
ENST00000453906.5:c.407-5499C= ENSP00000403035.1:n.407-5499C=
ENST00000474944.5:n.427-5499C=
ENST00000496213.5:n.311C=
NM_001142301.1:c.603C= , LRG_688t2:c.603C= NP_001135773.1:p.Ser201=
NM_153704.5:c.846C= , LRG_688t1:c.846C= NP_714915.3:p.Ser282=
NR_024522.1:n.917C=
XM_006716686.2:c.543C= XP_006716749.1:p.Ser181=
XM_006716687.2:c.246C= XP_006716750.1:p.Ser82=
XM_011517363.1:c.407-5499C= XP_011515665.1:n.407-5499C=
XR_428387.1:n.904C=
XR_928360.1:n.904C=
XR_928361.1:n.904C=
XR_928362.1:n.904C=
XM_006716686.4:c.543C= XP_006716749.1:p.Ser181=
XM_011517363.3:c.407-5499C= XP_011515665.1:n.407-5499C=
XM_024447326.1:c.192C= XP_024303094.1:p.Ser64=
XR_001745619.2:n.887C=
XR_428387.2:n.887C=
XR_928360.3:n.887C=
XR_928362.3:n.887C=
NM_153704.6:c.846C= MANE Select NP_714915.3:p.Ser282=
NR_024522.2:n.867C=