Canonical Allele Identifier: CA10351895

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760297A>G , CM000685.2:g.13760297A>G	GRCh38
NC_000023.10:g.13778416A>G , CM000685.1:g.13778416A>G	GRCh37
NC_000023.9:g.13688337A>G	NCBI36
NG_008872.1:g.30585A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1837A>G MANE Select	NP_003602.1:p.Thr613Ala
ENST00000340096.11:c.1837A>G MANE Select	ENSP00000344314.6:p.Thr613Ala
NM_001330209.1:c.1717A>G	NP_001317138.1:p.Thr573Ala
NM_001330209.2:c.1717A>G	NP_001317138.1:p.Thr573Ala
NM_001330210.1:c.1417A>G	NP_001317139.1:p.Thr473Ala
NM_001330210.2:c.1417A>G	NP_001317139.1:p.Thr473Ala
NM_003611.2:c.1837A>G	NP_003602.1:p.Thr613Ala
ENST00000340096.10:c.1837A>G	ENSP00000344314.6:p.Thr613Ala
ENST00000380550.6:c.1717A>G	ENSP00000369923.3:p.Thr573Ala
ENST00000380567.5:c.1417A>G	ENSP00000369941.1:p.Thr473Ala
ENST00000380567.6:c.*1530A>G	ENSP00000369941.2:n.*1530A>G
ENST00000398395.7:c.*177A>G	ENSP00000381432.4:n.*177A>G
ENST00000398395.8:c.*1298A>G	ENSP00000381432.5:n.*1298A>G
ENST00000464463.6:n.3666A>G
ENST00000490265.5:n.2812A>G
ENST00000490265.6:n.2366A>G
ENST00000682237.1:c.*1397A>G	ENSP00000507121.1:n.*1397A>G
ENST00000682562.1:c.*3239A>G	ENSP00000507874.1:n.*3239A>G
ENST00000682953.1:c.*2564A>G	ENSP00000507878.1:n.*2564A>G
ENST00000683055.1:c.*2818A>G	ENSP00000508191.1:n.*2818A>G
ENST00000683284.1:c.*2068A>G	ENSP00000507837.1:n.*2068A>G
ENST00000683427.1:c.*494A>G	ENSP00000507290.1:n.*494A>G
ENST00000683454.1:n.1851A>G
ENST00000683637.1:n.2946A>G
ENST00000683655.1:c.*2051A>G	ENSP00000506770.1:n.*2051A>G
ENST00000683713.1:c.*2068A>G	ENSP00000507797.1:n.*2068A>G
ENST00000684577.1:c.*1534A>G	ENSP00000507871.1:n.*1534A>G
XM_005274599.2:c.1858A>G	XP_005274656.1:p.Thr620Ala
XM_005274602.2:c.1858A>G	XP_005274659.1:p.Thr620Ala
XM_005274603.2:c.1738A>G	XP_005274660.1:p.Thr580Ala
XM_005274604.2:c.1717A>G	XP_005274661.1:p.Thr573Ala
XM_005274606.2:c.1693A>G	XP_005274663.1:p.Thr565Ala
XM_005274606.4:c.1693A>G	XP_005274663.1:p.Thr565Ala
XM_005274607.3:c.1417A>G	XP_005274664.1:p.Thr473Ala
XM_011545591.1:c.1858A>G	XP_011543893.1:p.Thr620Ala
XM_011545592.1:c.1645A>G	XP_011543894.1:p.Thr549Ala
XM_011545592.3:c.1645A>G	XP_011543894.1:p.Thr549Ala
XM_011545593.1:c.1858A>G	XP_011543895.1:p.Thr620Ala
XM_011545594.1:c.1516A>G	XP_011543896.1:p.Thr506Ala
XM_011545594.3:c.1516A>G	XP_011543896.1:p.Thr506Ala
XM_011545595.1:c.1516A>G	XP_011543897.1:p.Thr506Ala
XM_011545596.1:c.1858A>G	XP_011543898.1:p.Thr620Ala
XM_011545597.1:c.1417A>G	XP_011543899.1:p.Thr473Ala
XM_011545597.2:c.1417A>G	XP_011543899.1:p.Thr473Ala
XM_011545598.1:c.562A>G	XP_011543900.1:p.Thr188Ala
XM_017029909.1:c.1417A>G	XP_016885398.1:p.Thr473Ala
XM_017029911.1:c.895A>G	XP_016885400.1:p.Thr299Ala
XM_024452468.1:c.562A>G	XP_024308236.1:p.Thr188Ala
XM_024452469.1:c.562A>G	XP_024308237.1:p.Thr188Ala
XM_024452470.1:c.562A>G	XP_024308238.1:p.Thr188Ala
XM_024452471.1:c.562A>G	XP_024308239.1:p.Thr188Ala
XR_247288.2:n.2197A>G