Canonical Allele Identifier: CA412312731

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13768093G>T , CM000685.2:g.13768093G>T	GRCh38
NC_000023.10:g.13786212G>T , CM000685.1:g.13786212G>T	GRCh37
NC_000023.9:g.13696133G>T	NCBI36
NG_008872.1:g.38381G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2797G>T MANE Select	NP_003602.1:p.Glu933Ter
ENST00000340096.11:c.2797G>T MANE Select	ENSP00000344314.6:p.Glu933Ter
NM_001330209.1:c.2677G>T	NP_001317138.1:p.Glu893Ter
NM_001330209.2:c.2677G>T	NP_001317138.1:p.Glu893Ter
NM_001330210.1:c.2377G>T	NP_001317139.1:p.Glu793Ter
NM_001330210.2:c.2377G>T	NP_001317139.1:p.Glu793Ter
NM_003611.2:c.2797G>T	NP_003602.1:p.Glu933Ter
ENST00000340096.10:c.2797G>T	ENSP00000344314.6:p.Glu933Ter
ENST00000380550.6:c.2677G>T	ENSP00000369923.3:p.Glu893Ter
ENST00000380567.5:c.2377G>T	ENSP00000369941.1:p.Glu793Ter
ENST00000380567.6:c.*2490G>T	ENSP00000369941.2:n.*2490G>T
ENST00000398395.7:c.*1137G>T	ENSP00000381432.4:n.*1137G>T
ENST00000398395.8:c.*2258G>T	ENSP00000381432.5:n.*2258G>T
ENST00000464463.5:n.507G>T
ENST00000464463.6:n.4626G>T
ENST00000474705.1:n.189G>T
ENST00000490265.5:n.3772G>T
ENST00000490265.6:n.3326G>T
ENST00000682237.1:c.*2357G>T	ENSP00000507121.1:n.*2357G>T
ENST00000682562.1:c.*4088G>T	ENSP00000507874.1:n.*4088G>T
ENST00000682953.1:c.*3413G>T	ENSP00000507878.1:n.*3413G>T
ENST00000683055.1:c.*4436G>T	ENSP00000508191.1:n.*4436G>T
ENST00000683284.1:c.*3028G>T	ENSP00000507837.1:n.*3028G>T
ENST00000683427.1:c.*2223G>T	ENSP00000507290.1:n.*2223G>T
ENST00000683454.1:n.2811G>T
ENST00000683637.1:n.3906G>T
ENST00000683655.1:c.*3011G>T	ENSP00000506770.1:n.*3011G>T
ENST00000683713.1:c.*3028G>T	ENSP00000507797.1:n.*3028G>T
ENST00000684577.1:c.*2383G>T	ENSP00000507871.1:n.*2383G>T
XM_005274599.2:c.2818G>T	XP_005274656.1:p.Glu940Ter
XM_005274602.2:c.2707G>T	XP_005274659.1:p.Glu903Ter
XM_005274603.2:c.2698G>T	XP_005274660.1:p.Glu900Ter
XM_005274604.2:c.2677G>T	XP_005274661.1:p.Glu893Ter
XM_005274606.2:c.2653G>T	XP_005274663.1:p.Glu885Ter
XM_005274606.4:c.2653G>T	XP_005274663.1:p.Glu885Ter
XM_005274607.3:c.2377G>T	XP_005274664.1:p.Glu793Ter
XM_011545591.1:c.2818G>T	XP_011543893.1:p.Glu940Ter
XM_011545592.1:c.2605G>T	XP_011543894.1:p.Glu869Ter
XM_011545592.3:c.2605G>T	XP_011543894.1:p.Glu869Ter
XM_011545593.1:c.*74G>T	XP_011543895.1:n.*74G>T
XM_011545594.1:c.2476G>T	XP_011543896.1:p.Glu826Ter
XM_011545594.3:c.2476G>T	XP_011543896.1:p.Glu826Ter
XM_011545595.1:c.2476G>T	XP_011543897.1:p.Glu826Ter
XM_011545596.1:c.*38G>T	XP_011543898.1:n.*38G>T
XM_011545597.1:c.2266G>T	XP_011543899.1:p.Glu756Ter
XM_011545597.2:c.2266G>T	XP_011543899.1:p.Glu756Ter
XM_011545598.1:c.1522G>T	XP_011543900.1:p.Glu508Ter
XM_017029909.1:c.2377G>T	XP_016885398.1:p.Glu793Ter
XM_017029911.1:c.1855G>T	XP_016885400.1:p.Glu619Ter
XM_024452468.1:c.1522G>T	XP_024308236.1:p.Glu508Ter
XM_024452469.1:c.1522G>T	XP_024308237.1:p.Glu508Ter
XM_024452470.1:c.1522G>T	XP_024308238.1:p.Glu508Ter
XM_024452471.1:c.1411G>T	XP_024308239.1:p.Glu471Ter
XR_247288.2:n.2999G>T