Canonical Allele Identifier: CA4808434
Community Standard Title: NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93816388G>A , CM000670.2:g.93816388G>A GRCh38
NC_000008.10:g.94828616G>A , CM000670.1:g.94828616G>A GRCh37
NC_000008.9:g.94897792G>A NCBI36
NG_009190.1:g.66545G>A , LRG_688:g.66545G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2924G>A MANE Select NP_714915.3:p.Arg975His
ENST00000453321.8:c.2924G>A MANE Select ENSP00000389998.3:p.Arg975His
NM_001142301.1:c.2681G>A , LRG_688t2:c.2681G>A NP_001135773.1:p.Arg894His
NM_153704.5:c.2924G>A , LRG_688t1:c.2924G>A NP_714915.3:p.Arg975His
NR_024522.1:n.2995G>A
NR_024522.2:n.2945G>A
ENST00000323130.7:c.2894G>A ENSP00000314488.3:p.Arg965His
ENST00000323130.8:c.2924G>A ENSP00000314488.4:p.Arg975His
ENST00000409623.7:c.2681G>A ENSP00000386966.3:p.Arg894His
ENST00000409623.8:c.2879G>A ENSP00000386966.4:p.Arg960His
ENST00000452276.6:c.2807G>A ENSP00000388671.2:p.Arg936His
ENST00000453321.7:c.2924G>A ENSP00000389998.3:p.Arg975His
ENST00000453906.6:c.2042G>A ENSP00000403035.2:p.Arg681His
ENST00000518896.1:n.190G>A
ENST00000518896.2:c.1215G>A ENSP00000507992.1:n.1215G>A
ENST00000519845.5:n.1656G>A
ENST00000520680.2:c.3047G>A ENSP00000428785.2:p.Arg1016His
ENST00000521517.6:c.2825G>A ENSP00000430740.2:p.Arg942His
ENST00000681998.1:c.2745G>A ENSP00000506773.1:n.2745G>A
ENST00000682036.1:c.2165G>A ENSP00000508390.1:p.Arg722His
ENST00000682577.1:c.2697G>A ENSP00000506963.1:n.2697G>A
ENST00000682624.1:c.*2498G>A ENSP00000508343.1:n.*2498G>A
ENST00000682700.1:c.3055G>A ENSP00000507627.1:n.3055G>A
ENST00000682744.1:n.2359G>A
ENST00000682804.1:n.2747G>A
ENST00000682837.1:c.2413G>A ENSP00000507920.1:n.2413G>A
ENST00000682935.1:n.4974G>A
ENST00000682984.1:c.2585G>A ENSP00000507209.1:p.Arg862His
ENST00000683078.1:c.2679G>A ENSP00000506796.1:n.2679G>A
ENST00000683223.1:c.2850G>A ENSP00000507685.1:n.2850G>A
ENST00000683238.1:n.4148G>A
ENST00000683249.1:n.4521G>A
ENST00000683336.1:c.2642G>A ENSP00000507695.1:n.2642G>A
ENST00000683362.1:c.2585G>A ENSP00000506985.1:p.Arg862His
ENST00000683919.1:c.2854G>A ENSP00000507617.1:n.2854G>A
ENST00000683953.1:c.2835G>A ENSP00000508375.1:n.2835G>A
ENST00000684023.1:c.3095G>A ENSP00000507461.1:n.3095G>A
ENST00000684064.1:c.2615G>A ENSP00000508192.1:p.Arg872His
ENST00000684089.1:n.4474G>A
ENST00000684149.1:c.*2103G>A ENSP00000507943.1:n.*2103G>A
ENST00000684343.1:c.1121G>A ENSP00000507591.1:p.Arg374His
ENST00000684416.1:n.2883G>A
ENST00000684540.1:c.3048G>A ENSP00000507987.1:n.3048G>A
XM_006716686.2:c.2621G>A XP_006716749.1:p.Arg874His
XM_006716686.4:c.2621G>A XP_006716749.1:p.Arg874His
XM_006716687.2:c.2324G>A XP_006716750.1:p.Arg775His
XM_011517363.1:c.2042G>A XP_011515665.1:p.Arg681His
XM_011517363.3:c.2042G>A XP_011515665.1:p.Arg681His
XM_024447326.1:c.2270G>A XP_024303094.1:p.Arg757His
XR_001745619.2:n.2965G>A
XR_428387.1:n.2982G>A
XR_428387.2:n.2965G>A
XR_928360.1:n.2982G>A
XR_928360.3:n.2965G>A
XR_928361.1:n.2982G>A
XR_928362.1:n.3176G>A
XR_928362.3:n.3159G>A