Canonical Allele Identifier: CA181340935
Community Standard Title: NM_153704.6(TMEM67):c.2100+3A>G
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93797473A>G , CM000670.2:g.93797473A>G GRCh38
NC_000008.10:g.94809701A>G , CM000670.1:g.94809701A>G GRCh37
NC_000008.9:g.94878877A>G NCBI36
NG_009190.1:g.47630A>G , LRG_688:g.47630A>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2100+3A>G MANE Select NP_714915.3:n.2100+3A>G
ENST00000453321.8:c.2100+3A>G MANE Select ENSP00000389998.3:n.2100+3A>G
NM_001142301.1:c.1857+3A>G , LRG_688t2:c.1857+3A>G NP_001135773.1:n.1857+3A>G
NM_153704.5:c.2100+3A>G , LRG_688t1:c.2100+3A>G NP_714915.3:n.2100+3A>G
NR_024522.1:n.2171+3A>G
NR_024522.2:n.2121+3A>G
ENST00000323130.7:c.2070+3A>G ENSP00000314488.3:n.2070+3A>G
ENST00000323130.8:c.2100+3A>G ENSP00000314488.4:n.2100+3A>G
ENST00000409623.7:c.1857+3A>G ENSP00000386966.3:n.1857+3A>G
ENST00000409623.8:c.2055+3A>G ENSP00000386966.4:n.2055+3A>G
ENST00000452276.6:c.2100+3A>G ENSP00000388671.2:n.2100+3A>G
ENST00000453321.7:c.2100+3A>G ENSP00000389998.3:n.2100+3A>G
ENST00000453906.6:c.1218+3A>G ENSP00000403035.2:n.1218+3A>G
ENST00000474944.5:n.1238+3A>G
ENST00000518896.2:c.391+3A>G ENSP00000507992.1:n.391+3A>G
ENST00000519845.5:n.832+3A>G
ENST00000520680.2:c.2223+3A>G ENSP00000428785.2:n.2223+3A>G
ENST00000521517.6:c.2001+3A>G ENSP00000430740.2:n.2001+3A>G
ENST00000681998.1:c.1921+3A>G ENSP00000506773.1:n.1921+3A>G
ENST00000682036.1:c.1341+3A>G ENSP00000508390.1:n.1341+3A>G
ENST00000682577.1:c.1873+3A>G ENSP00000506963.1:n.1873+3A>G
ENST00000682624.1:c.*1674+3A>G ENSP00000508343.1:n.*1674+3A>G
ENST00000682700.1:c.2100+3A>G ENSP00000507627.1:n.2100+3A>G
ENST00000682744.1:n.1638+3A>G
ENST00000682804.1:n.1923+3A>G
ENST00000682837.1:c.1589+3A>G ENSP00000507920.1:n.1589+3A>G
ENST00000682935.1:n.4150+3A>G
ENST00000682984.1:c.1761+3A>G ENSP00000507209.1:n.1761+3A>G
ENST00000683078.1:c.1855+3A>G ENSP00000506796.1:n.1855+3A>G
ENST00000683223.1:c.1832+3A>G ENSP00000507685.1:n.1832+3A>G
ENST00000683238.1:n.3324+3A>G
ENST00000683249.1:n.3697+3A>G
ENST00000683336.1:c.1921+3A>G ENSP00000507695.1:n.1921+3A>G
ENST00000683362.1:c.1761+3A>G ENSP00000506985.1:n.1761+3A>G
ENST00000683850.1:n.2023+3A>G
ENST00000683919.1:c.2030+3A>G ENSP00000507617.1:n.2030+3A>G
ENST00000683953.1:c.2011+3A>G ENSP00000508375.1:n.2011+3A>G
ENST00000684023.1:c.2077+3A>G ENSP00000507461.1:n.2077+3A>G
ENST00000684064.1:c.1791+3A>G ENSP00000508192.1:n.1791+3A>G
ENST00000684089.1:n.3650+3A>G
ENST00000684149.1:c.*1279+3A>G ENSP00000507943.1:n.*1279+3A>G
ENST00000684343.1:c.297+3A>G ENSP00000507591.1:n.297+3A>G
ENST00000684416.1:n.2059+3A>G
ENST00000684540.1:c.2030+3A>G ENSP00000507987.1:n.2030+3A>G
XM_006716686.2:c.1797+3A>G XP_006716749.1:n.1797+3A>G
XM_006716686.4:c.1797+3A>G XP_006716749.1:n.1797+3A>G
XM_006716687.2:c.1500+3A>G XP_006716750.1:n.1500+3A>G
XM_011517363.1:c.1218+3A>G XP_011515665.1:n.1218+3A>G
XM_011517363.3:c.1218+3A>G XP_011515665.1:n.1218+3A>G
XM_024447326.1:c.1446+3A>G XP_024303094.1:n.1446+3A>G
XR_001745619.2:n.2141+3A>G
XR_428387.1:n.2158+3A>G
XR_428387.2:n.2141+3A>G
XR_928360.1:n.2158+3A>G
XR_928360.3:n.2141+3A>G
XR_928361.1:n.2158+3A>G
XR_928362.1:n.2158+3A>G
XR_928362.3:n.2141+3A>G