Canonical Allele Identifier: CA4808296
Community Standard Title: NM_153704.6(TMEM67):c.2439+5G>C
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93804883G>C , CM000670.2:g.93804883G>C GRCh38
NC_000008.10:g.94817111G>C , CM000670.1:g.94817111G>C GRCh37
NC_000008.9:g.94886287G>C NCBI36
NG_009190.1:g.55040G>C , LRG_688:g.55040G>C

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2439+5G>C MANE Select NP_714915.3:n.2439+5G>C
ENST00000453321.8:c.2439+5G>C MANE Select ENSP00000389998.3:n.2439+5G>C
NM_001142301.1:c.2196+5G>C , LRG_688t2:c.2196+5G>C NP_001135773.1:n.2196+5G>C
NM_153704.5:c.2439+5G>C , LRG_688t1:c.2439+5G>C NP_714915.3:n.2439+5G>C
NR_024522.1:n.2510+5G>C
NR_024522.2:n.2460+5G>C
ENST00000323130.7:c.2409+5G>C ENSP00000314488.3:n.2409+5G>C
ENST00000323130.8:c.2439+5G>C ENSP00000314488.4:n.2439+5G>C
ENST00000409623.7:c.2196+5G>C ENSP00000386966.3:n.2196+5G>C
ENST00000409623.8:c.2394+5G>C ENSP00000386966.4:n.2394+5G>C
ENST00000452276.6:c.2322+1199G>C ENSP00000388671.2:n.2322+1199G>C
ENST00000453321.7:c.2439+5G>C ENSP00000389998.3:n.2439+5G>C
ENST00000453906.6:c.1557+5G>C ENSP00000403035.2:n.1557+5G>C
ENST00000474944.5:n.1577+5G>C
ENST00000518896.2:c.730+5G>C ENSP00000507992.1:n.730+5G>C
ENST00000519845.5:n.1171+5G>C
ENST00000520680.2:c.2562+5G>C ENSP00000428785.2:n.2562+5G>C
ENST00000521517.6:c.2340+5G>C ENSP00000430740.2:n.2340+5G>C
ENST00000681998.1:c.2260+5G>C ENSP00000506773.1:n.2260+5G>C
ENST00000682036.1:c.1680+5G>C ENSP00000508390.1:n.1680+5G>C
ENST00000682577.1:c.2212+5G>C ENSP00000506963.1:n.2212+5G>C
ENST00000682624.1:c.*2013+5G>C ENSP00000508343.1:n.*2013+5G>C
ENST00000682700.1:c.2439+5G>C ENSP00000507627.1:n.2439+5G>C
ENST00000682744.1:n.1977+5G>C
ENST00000682804.1:n.2262+5G>C
ENST00000682837.1:c.1928+5G>C ENSP00000507920.1:n.1928+5G>C
ENST00000682935.1:n.4489+5G>C
ENST00000682984.1:c.2100+5G>C ENSP00000507209.1:n.2100+5G>C
ENST00000683078.1:c.2194+5G>C ENSP00000506796.1:n.2194+5G>C
ENST00000683223.1:c.2171+5G>C ENSP00000507685.1:n.2171+5G>C
ENST00000683238.1:n.3663+5G>C
ENST00000683249.1:n.4036+5G>C
ENST00000683336.1:c.2260+5G>C ENSP00000507695.1:n.2260+5G>C
ENST00000683362.1:c.2100+5G>C ENSP00000506985.1:n.2100+5G>C
ENST00000683850.1:n.2362+5G>C
ENST00000683919.1:c.2369+5G>C ENSP00000507617.1:n.2369+5G>C
ENST00000683953.1:c.2350+5G>C ENSP00000508375.1:n.2350+5G>C
ENST00000684023.1:c.2416+5G>C ENSP00000507461.1:n.2416+5G>C
ENST00000684064.1:c.2130+5G>C ENSP00000508192.1:n.2130+5G>C
ENST00000684089.1:n.3989+5G>C
ENST00000684149.1:c.*1618+5G>C ENSP00000507943.1:n.*1618+5G>C
ENST00000684343.1:c.636+5G>C ENSP00000507591.1:n.636+5G>C
ENST00000684416.1:n.2398+5G>C
ENST00000684540.1:c.2369+5G>C ENSP00000507987.1:n.2369+5G>C
XM_006716686.2:c.2136+5G>C XP_006716749.1:n.2136+5G>C
XM_006716686.4:c.2136+5G>C XP_006716749.1:n.2136+5G>C
XM_006716687.2:c.1839+5G>C XP_006716750.1:n.1839+5G>C
XM_011517363.1:c.1557+5G>C XP_011515665.1:n.1557+5G>C
XM_011517363.3:c.1557+5G>C XP_011515665.1:n.1557+5G>C
XM_024447326.1:c.1785+5G>C XP_024303094.1:n.1785+5G>C
XR_001745619.2:n.2480+5G>C
XR_428387.1:n.2497+5G>C
XR_428387.2:n.2480+5G>C
XR_928360.1:n.2497+5G>C
XR_928360.3:n.2480+5G>C
XR_928361.1:n.2497+5G>C
XR_928362.1:n.2497+5G>C
XR_928362.3:n.2480+5G>C