Canonical Allele Identifier: CA2416372634
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13761097C= , CM000685.2:g.13761097C= GRCh38
NC_000023.10:g.13779216C= , CM000685.1:g.13779216C= GRCh37
NC_000023.9:g.13689137C= NCBI36
NG_008872.1:g.31385C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.*1966C= ENSP00000369941.2:n.*1966C=
ENST00000398395.8:c.*1734C= ENSP00000381432.5:n.*1734C=
ENST00000464463.6:n.4102C=
ENST00000490265.6:n.2802C=
ENST00000682237.1:c.*1833C= ENSP00000507121.1:n.*1833C=
ENST00000682562.1:c.*3675C= ENSP00000507874.1:n.*3675C=
ENST00000682953.1:c.*3000C= ENSP00000507878.1:n.*3000C=
ENST00000683055.1:c.*3254C= ENSP00000508191.1:n.*3254C=
ENST00000683284.1:c.*2504C= ENSP00000507837.1:n.*2504C=
ENST00000683427.1:c.*930C= ENSP00000507290.1:n.*930C=
ENST00000683454.1:n.2287C=
ENST00000683637.1:n.3382C=
ENST00000683655.1:c.*2487C= ENSP00000506770.1:n.*2487C=
ENST00000683713.1:c.*2504C= ENSP00000507797.1:n.*2504C=
ENST00000684577.1:c.*1970C= ENSP00000507871.1:n.*1970C=
ENST00000340096.11:c.2273C= MANE Select ENSP00000344314.6:p.Ser758=
ENST00000340096.10:c.2273C= ENSP00000344314.6:p.Ser758=
ENST00000380550.6:c.2153C= ENSP00000369923.3:p.Ser718=
ENST00000380567.5:c.1853C= ENSP00000369941.1:p.Ser618=
ENST00000398395.7:c.*613C= ENSP00000381432.4:n.*613C=
ENST00000464463.5:n.94C=
ENST00000490265.5:n.3248C=
NM_003611.2:c.2273C= NP_003602.1:p.Ser758=
XM_005274599.2:c.2294C= XP_005274656.1:p.Ser765=
XM_005274602.2:c.2294C= XP_005274659.1:p.Ser765=
XM_005274603.2:c.2174C= XP_005274660.1:p.Ser725=
XM_005274604.2:c.2153C= XP_005274661.1:p.Ser718=
XM_005274606.2:c.2129C= XP_005274663.1:p.Ser710=
XM_005274607.3:c.1853C= XP_005274664.1:p.Ser618=
XM_011545591.1:c.2294C= XP_011543893.1:p.Ser765=
XM_011545592.1:c.2081C= XP_011543894.1:p.Ser694=
XM_011545593.1:c.2294C= XP_011543895.1:p.Ser765=
XM_011545594.1:c.1952C= XP_011543896.1:p.Ser651=
XM_011545595.1:c.1952C= XP_011543897.1:p.Ser651=
XM_011545596.1:c.2294C= XP_011543898.1:p.Ser765=
XM_011545597.1:c.1853C= XP_011543899.1:p.Ser618=
XM_011545598.1:c.998C= XP_011543900.1:p.Ser333=
XR_247288.2:n.2633C=
NM_001330209.1:c.2153C= NP_001317138.1:p.Ser718=
NM_001330210.1:c.1853C= NP_001317139.1:p.Ser618=
XM_005274606.4:c.2129C= XP_005274663.1:p.Ser710=
XM_011545592.3:c.2081C= XP_011543894.1:p.Ser694=
XM_011545594.3:c.1952C= XP_011543896.1:p.Ser651=
XM_011545597.2:c.1853C= XP_011543899.1:p.Ser618=
XM_017029909.1:c.1853C= XP_016885398.1:p.Ser618=
XM_017029911.1:c.1331C= XP_016885400.1:p.Ser444=
XM_024452468.1:c.998C= XP_024308236.1:p.Ser333=
XM_024452469.1:c.998C= XP_024308237.1:p.Ser333=
XM_024452470.1:c.998C= XP_024308238.1:p.Ser333=
XM_024452471.1:c.998C= XP_024308239.1:p.Ser333=
NM_003611.3:c.2273C= MANE Select NP_003602.1:p.Ser758=
NM_001330209.2:c.2153C= NP_001317138.1:p.Ser718=
NM_001330210.2:c.1853C= NP_001317139.1:p.Ser618=