Canonical Allele Identifier: CA4807502

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93754957T>A , CM000670.2:g.93754957T>A	GRCh38
NC_000008.10:g.94767185T>A , CM000670.1:g.94767185T>A	GRCh37
NC_000008.9:g.94836361T>A	NCBI36
NG_009190.1:g.5114T>A , LRG_688:g.5114T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.43T>A MANE Select	NP_714915.3:p.Ser15Thr
ENST00000453321.8:c.43T>A MANE Select	ENSP00000389998.3:p.Ser15Thr
NM_001142301.1:c.-180+48T>A , LRG_688t2:c.-180+48T>A	NP_001135773.1:n.-180+48T>A
NM_153704.5:c.43T>A , LRG_688t1:c.43T>A	NP_714915.3:p.Ser15Thr
NR_024522.1:n.114T>A
NR_024522.2:n.64T>A
ENST00000323130.7:c.13T>A	ENSP00000314488.3:p.Ser5Thr
ENST00000323130.8:c.43T>A	ENSP00000314488.4:p.Ser15Thr
ENST00000409623.7:c.-180+48T>A	ENSP00000386966.3:n.-180+48T>A
ENST00000409623.8:c.43T>A	ENSP00000386966.4:p.Ser15Thr
ENST00000452276.5:c.-205+48T>A	ENSP00000388671.1:n.-205+48T>A
ENST00000452276.6:c.43T>A	ENSP00000388671.2:p.Ser15Thr
ENST00000453321.7:c.43T>A	ENSP00000389998.3:p.Ser15Thr
ENST00000453906.5:c.43T>A	ENSP00000403035.1:p.Ser15Thr
ENST00000453906.6:c.43T>A	ENSP00000403035.2:p.Ser15Thr
ENST00000455946.5:c.43T>A	ENSP00000416339.1:p.Ser15Thr
ENST00000474944.5:n.63T>A
ENST00000475305.1:n.52T>A
ENST00000481620.1:n.46T>A
ENST00000498673.5:c.-418+48T>A	ENSP00000430232.1:n.-418+48T>A
ENST00000518319.5:c.-411+48T>A	ENSP00000430289.1:n.-411+48T>A
ENST00000520680.2:c.43T>A	ENSP00000428785.2:p.Ser15Thr
ENST00000521065.1:c.38T>A
ENST00000521065.2:c.43T>A	ENSP00000427947.2:p.Ser15Thr
ENST00000521222.5:c.43T>A	ENSP00000429925.1:p.Ser15Thr
ENST00000521517.5:c.35T>A
ENST00000521517.6:c.43T>A	ENSP00000430740.2:p.Ser15Thr
ENST00000681998.1:c.43T>A	ENSP00000506773.1:p.Ser15Thr
ENST00000682036.1:c.43T>A	ENSP00000508390.1:p.Ser15Thr
ENST00000682577.1:c.43T>A	ENSP00000506963.1:p.Ser15Thr
ENST00000682624.1:c.43T>A	ENSP00000508343.1:p.Ser15Thr
ENST00000682700.1:c.43T>A	ENSP00000507627.1:p.Ser15Thr
ENST00000682804.1:n.25+48T>A
ENST00000682837.1:c.43T>A	ENSP00000507920.1:p.Ser15Thr
ENST00000682935.1:n.43T>A
ENST00000682984.1:c.43T>A	ENSP00000507209.1:p.Ser15Thr
ENST00000683078.1:c.43T>A	ENSP00000506796.1:p.Ser15Thr
ENST00000683223.1:c.43T>A	ENSP00000507685.1:p.Ser15Thr
ENST00000683249.1:n.64T>A
ENST00000683336.1:c.43T>A	ENSP00000507695.1:p.Ser15Thr
ENST00000683362.1:c.43T>A	ENSP00000506985.1:p.Ser15Thr
ENST00000683919.1:c.43T>A	ENSP00000507617.1:p.Ser15Thr
ENST00000683953.1:c.43T>A	ENSP00000508375.1:p.Ser15Thr
ENST00000684023.1:c.43T>A	ENSP00000507461.1:p.Ser15Thr
ENST00000684064.1:c.-205+48T>A	ENSP00000508192.1:n.-205+48T>A
ENST00000684089.1:n.33T>A
ENST00000684149.1:c.43T>A	ENSP00000507943.1:p.Ser15Thr
ENST00000684416.1:n.23+48T>A
ENST00000684540.1:c.43T>A	ENSP00000507987.1:p.Ser15Thr
ENST00000684733.1:n.67T>A
XM_006716686.2:c.-172T>A	XP_006716749.1:n.-172T>A
XM_006716686.4:c.-172T>A	XP_006716749.1:n.-172T>A
XM_011517363.1:c.43T>A	XP_011515665.1:p.Ser15Thr
XM_011517363.3:c.43T>A	XP_011515665.1:p.Ser15Thr
XM_024447326.1:c.-367T>A	XP_024303094.1:n.-367T>A
XR_001745619.2:n.84T>A
XR_428387.1:n.101T>A
XR_428387.2:n.84T>A
XR_928360.1:n.101T>A
XR_928360.3:n.84T>A
XR_928361.1:n.101T>A
XR_928362.1:n.101T>A
XR_928362.3:n.84T>A