Canonical Allele Identifier: CA2687923101
Gene: TMEM67 HGNC NCBI

Linked Data

gnomAD v4: 8-93809006-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93809006T>G , CM000670.2:g.93809006T>G GRCh38
NC_000008.10:g.94821234T>G , CM000670.1:g.94821234T>G GRCh37
NC_000008.9:g.94890410T>G NCBI36
NG_009190.1:g.59163T>G , LRG_688:g.59163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.2557-51T>G ENSP00000314488.4:n.2557-51T>G
ENST00000409623.8:c.2512-51T>G ENSP00000386966.4:n.2512-51T>G
ENST00000452276.6:c.2440-51T>G ENSP00000388671.2:n.2440-51T>G
ENST00000453906.6:c.1675-51T>G ENSP00000403035.2:n.1675-51T>G
ENST00000518896.2:c.848-51T>G ENSP00000507992.1:n.848-51T>G
ENST00000520680.2:c.2680-51T>G ENSP00000428785.2:n.2680-51T>G
ENST00000521517.6:c.2458-51T>G ENSP00000430740.2:n.2458-51T>G
ENST00000681998.1:c.2378-51T>G ENSP00000506773.1:n.2378-51T>G
ENST00000682036.1:c.1798-51T>G ENSP00000508390.1:n.1798-51T>G
ENST00000682577.1:c.2330-51T>G ENSP00000506963.1:n.2330-51T>G
ENST00000682624.1:c.*2131-51T>G ENSP00000508343.1:n.*2131-51T>G
ENST00000682700.1:c.2557-51T>G ENSP00000507627.1:n.2557-51T>G
ENST00000682744.1:n.2095-51T>G
ENST00000682804.1:n.2380-51T>G
ENST00000682837.1:c.2046-51T>G ENSP00000507920.1:n.2046-51T>G
ENST00000682935.1:n.4607-51T>G
ENST00000682984.1:c.2218-51T>G ENSP00000507209.1:n.2218-51T>G
ENST00000683078.1:c.2312-51T>G ENSP00000506796.1:n.2312-51T>G
ENST00000683223.1:c.2289-51T>G ENSP00000507685.1:n.2289-51T>G
ENST00000683238.1:n.3781-51T>G
ENST00000683249.1:n.4154-51T>G
ENST00000683336.1:c.2378-51T>G ENSP00000507695.1:n.2378-51T>G
ENST00000683362.1:c.2218-51T>G ENSP00000506985.1:n.2218-51T>G
ENST00000683850.1:n.2480-51T>G
ENST00000683919.1:c.2487-51T>G ENSP00000507617.1:n.2487-51T>G
ENST00000683953.1:c.2468-51T>G ENSP00000508375.1:n.2468-51T>G
ENST00000684023.1:c.2534-51T>G ENSP00000507461.1:n.2534-51T>G
ENST00000684064.1:c.2248-51T>G ENSP00000508192.1:n.2248-51T>G
ENST00000684089.1:n.4107-51T>G
ENST00000684149.1:c.*1736-51T>G ENSP00000507943.1:n.*1736-51T>G
ENST00000684343.1:c.754-51T>G ENSP00000507591.1:n.754-51T>G
ENST00000684416.1:n.2516-51T>G
ENST00000684540.1:c.2487-51T>G ENSP00000507987.1:n.2487-51T>G
ENST00000453321.8:c.2557-51T>G MANE Select ENSP00000389998.3:n.2557-51T>G
ENST00000323130.7:c.2527-51T>G ENSP00000314488.3:n.2527-51T>G
ENST00000409623.7:c.2314-51T>G ENSP00000386966.3:n.2314-51T>G
ENST00000453321.7:c.2557-51T>G ENSP00000389998.3:n.2557-51T>G
ENST00000474944.5:n.1695-51T>G
ENST00000519845.5:n.1289-51T>G
NM_001142301.1:c.2314-51T>G , LRG_688t2:c.2314-51T>G NP_001135773.1:n.2314-51T>G
NM_153704.5:c.2557-51T>G , LRG_688t1:c.2557-51T>G NP_714915.3:n.2557-51T>G
NR_024522.1:n.2628-51T>G
XM_006716686.2:c.2254-51T>G XP_006716749.1:n.2254-51T>G
XM_006716687.2:c.1957-51T>G XP_006716750.1:n.1957-51T>G
XM_011517363.1:c.1675-51T>G XP_011515665.1:n.1675-51T>G
XR_428387.1:n.2615-51T>G
XR_928360.1:n.2615-51T>G
XR_928361.1:n.2615-51T>G
XR_928362.1:n.2615-51T>G
XM_006716686.4:c.2254-51T>G XP_006716749.1:n.2254-51T>G
XM_011517363.3:c.1675-51T>G XP_011515665.1:n.1675-51T>G
XM_024447326.1:c.1903-51T>G XP_024303094.1:n.1903-51T>G
XR_001745619.2:n.2598-51T>G
XR_428387.2:n.2598-51T>G
XR_928360.3:n.2598-51T>G
XR_928362.3:n.2598-51T>G
NM_153704.6:c.2557-51T>G MANE Select NP_714915.3:n.2557-51T>G
NR_024522.2:n.2578-51T>G