Canonical Allele Identifier: CA114968
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377
dbSNP Id: rs111619594
gnomAD v2: 8-94793190-A-T
gnomAD v3: 8-93780962-A-T
gnomAD v4: 8-93780962-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780962A>T , CM000670.2:g.93780962A>T GRCh38
NC_000008.10:g.94793190A>T , CM000670.1:g.94793190A>T GRCh37
NC_000008.9:g.94862366A>T NCBI36
NG_009190.1:g.31119A>T , LRG_688:g.31119A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.958A>T ENSP00000314488.4:p.Ser320Cys
ENST00000409623.8:c.958A>T ENSP00000386966.4:p.Ser320Cys
ENST00000452276.6:c.958A>T ENSP00000388671.2:p.Ser320Cys
ENST00000453906.6:c.407-5261A>T ENSP00000403035.2:n.407-5261A>T
ENST00000520680.2:c.958A>T ENSP00000428785.2:p.Ser320Cys
ENST00000521065.2:c.*675A>T ENSP00000427947.2:n.*675A>T
ENST00000521517.6:c.958A>T ENSP00000430740.2:p.Ser320Cys
ENST00000681998.1:c.799+215A>T ENSP00000506773.1:n.799+215A>T
ENST00000682036.1:c.407-5261A>T ENSP00000508390.1:n.407-5261A>T
ENST00000682577.1:c.888A>T ENSP00000506963.1:n.888A>T
ENST00000682624.1:c.*532A>T ENSP00000508343.1:n.*532A>T
ENST00000682700.1:c.958A>T ENSP00000507627.1:p.Ser320Cys
ENST00000682744.1:n.496A>T
ENST00000682804.1:n.781A>T
ENST00000682837.1:c.624+215A>T ENSP00000507920.1:n.624+215A>T
ENST00000682935.1:n.2518A>T
ENST00000682984.1:c.619A>T ENSP00000507209.1:p.Ser207Cys
ENST00000683078.1:c.713A>T ENSP00000506796.1:n.713A>T
ENST00000683223.1:c.710+215A>T ENSP00000507685.1:n.710+215A>T
ENST00000683238.1:n.2339A>T
ENST00000683249.1:n.2555A>T
ENST00000683336.1:c.799+215A>T ENSP00000507695.1:n.799+215A>T
ENST00000683362.1:c.619A>T ENSP00000506985.1:p.Ser207Cys
ENST00000683850.1:n.881A>T
ENST00000683919.1:c.888A>T ENSP00000507617.1:n.888A>T
ENST00000683953.1:c.869A>T ENSP00000508375.1:n.869A>T
ENST00000684023.1:c.1092A>T ENSP00000507461.1:n.1092A>T
ENST00000684064.1:c.649A>T ENSP00000508192.1:p.Ser217Cys
ENST00000684089.1:n.2508A>T
ENST00000684149.1:c.*294A>T ENSP00000507943.1:n.*294A>T
ENST00000684416.1:n.917A>T
ENST00000684540.1:c.888A>T ENSP00000507987.1:n.888A>T
ENST00000453321.8:c.958A>T MANE Select ENSP00000389998.3:p.Ser320Cys
ENST00000323130.7:c.928A>T ENSP00000314488.3:p.Ser310Cys
ENST00000409623.7:c.715A>T ENSP00000386966.3:p.Ser239Cys
ENST00000425545.2:n.405A>T
ENST00000452276.5:c.649A>T ENSP00000388671.1:p.Ser217Cys
ENST00000453321.7:c.958A>T ENSP00000389998.3:p.Ser320Cys
ENST00000453906.5:c.407-5261A>T ENSP00000403035.1:n.407-5261A>T
ENST00000474944.5:n.427-5261A>T
ENST00000496213.5:n.423A>T
NM_001142301.1:c.715A>T , LRG_688t2:c.715A>T NP_001135773.1:p.Ser239Cys
NM_153704.5:c.958A>T , LRG_688t1:c.958A>T NP_714915.3:p.Ser320Cys
NR_024522.1:n.1029A>T
XM_006716686.2:c.655A>T XP_006716749.1:p.Ser219Cys
XM_006716687.2:c.358A>T XP_006716750.1:p.Ser120Cys
XM_011517363.1:c.407-5261A>T XP_011515665.1:n.407-5261A>T
XR_428387.1:n.1016A>T
XR_928360.1:n.1016A>T
XR_928361.1:n.1016A>T
XR_928362.1:n.1016A>T
XM_006716686.4:c.655A>T XP_006716749.1:p.Ser219Cys
XM_011517363.3:c.407-5261A>T XP_011515665.1:n.407-5261A>T
XM_024447326.1:c.304A>T XP_024303094.1:p.Ser102Cys
XR_001745619.2:n.999A>T
XR_428387.2:n.999A>T
XR_928360.3:n.999A>T
XR_928362.3:n.999A>T
NM_153704.6:c.958A>T MANE Select NP_714915.3:p.Ser320Cys
NR_024522.2:n.979A>T