Canonical Allele Identifier: CA412338727

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13749444T>G , CM000685.2:g.13749444T>G	GRCh38
NC_000023.10:g.13767563T>G , CM000685.1:g.13767563T>G	GRCh37
NC_000023.9:g.13677484T>G	NCBI36
NG_008872.1:g.19732T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*539T>G	ENSP00000369941.2:n.*539T>G
ENST00000398395.8:c.*539T>G	ENSP00000381432.5:n.*539T>G
ENST00000464463.6:n.1129T>G
ENST00000490265.6:n.711T>G
ENST00000682237.1:c.846T>G	ENSP00000507121.1:p.Ile282Met
ENST00000682562.1:c.*539T>G	ENSP00000507874.1:n.*539T>G
ENST00000682953.1:c.*909T>G	ENSP00000507878.1:n.*909T>G
ENST00000683055.1:c.741T>G	ENSP00000508191.1:p.Ile247Met
ENST00000683065.1:n.255T>G
ENST00000683284.1:c.*413T>G	ENSP00000507837.1:n.*413T>G
ENST00000683427.1:c.846T>G	ENSP00000507290.1:p.Ile282Met
ENST00000683454.1:n.860T>G
ENST00000683637.1:n.1291T>G
ENST00000683655.1:c.*396T>G	ENSP00000506770.1:n.*396T>G
ENST00000683713.1:c.*413T>G	ENSP00000507797.1:n.*413T>G
ENST00000684577.1:c.*539T>G	ENSP00000507871.1:n.*539T>G
ENST00000340096.11:c.846T>G MANE Select	ENSP00000344314.6:p.Ile282Met
ENST00000340096.10:c.846T>G	ENSP00000344314.6:p.Ile282Met
ENST00000380550.6:c.846T>G	ENSP00000369923.3:p.Ile282Met
ENST00000380567.5:c.426T>G	ENSP00000369941.1:p.Ile142Met
ENST00000398395.7:c.435T>G	ENSP00000381432.4:p.Ile145Met
ENST00000490265.5:n.1157T>G
NM_003611.2:c.846T>G	NP_003602.1:p.Ile282Met
XM_005274599.2:c.867T>G	XP_005274656.1:p.Ile289Met
XM_005274602.2:c.867T>G	XP_005274659.1:p.Ile289Met
XM_005274603.2:c.867T>G	XP_005274660.1:p.Ile289Met
XM_005274604.2:c.846T>G	XP_005274661.1:p.Ile282Met
XM_005274606.2:c.702T>G	XP_005274663.1:p.Ile234Met
XM_005274607.3:c.426T>G	XP_005274664.1:p.Ile142Met
XM_011545591.1:c.867T>G	XP_011543893.1:p.Ile289Met
XM_011545592.1:c.654T>G	XP_011543894.1:p.Ile218Met
XM_011545593.1:c.867T>G	XP_011543895.1:p.Ile289Met
XM_011545594.1:c.525T>G	XP_011543896.1:p.Ile175Met
XM_011545595.1:c.525T>G	XP_011543897.1:p.Ile175Met
XM_011545596.1:c.867T>G	XP_011543898.1:p.Ile289Met
XM_011545597.1:c.426T>G	XP_011543899.1:p.Ile142Met
XR_247288.2:n.1206T>G
NM_001330209.1:c.846T>G	NP_001317138.1:p.Ile282Met
NM_001330210.1:c.426T>G	NP_001317139.1:p.Ile142Met
XM_005274606.4:c.702T>G	XP_005274663.1:p.Ile234Met
XM_011545592.3:c.654T>G	XP_011543894.1:p.Ile218Met
XM_011545594.3:c.525T>G	XP_011543896.1:p.Ile175Met
XM_011545597.2:c.426T>G	XP_011543899.1:p.Ile142Met
XM_017029909.1:c.426T>G	XP_016885398.1:p.Ile142Met
XM_024452468.1:c.-1094T>G	XP_024308236.1:n.-1094T>G
XM_024452469.1:c.-1094T>G	XP_024308237.1:n.-1094T>G
XM_024452470.1:c.-1094T>G	XP_024308238.1:n.-1094T>G
XM_024452471.1:c.-1094T>G	XP_024308239.1:n.-1094T>G
NM_003611.3:c.846T>G MANE Select	NP_003602.1:p.Ile282Met
NM_001330209.2:c.846T>G	NP_001317138.1:p.Ile282Met
NM_001330210.2:c.426T>G	NP_001317139.1:p.Ile142Met