Canonical Allele Identifier: CA2416371736
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13758440C= , CM000685.2:g.13758440C= GRCh38
NC_000023.10:g.13776559C= , CM000685.1:g.13776559C= GRCh37
NC_000023.9:g.13686480C= NCBI36
NG_008872.1:g.28728C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.*1339C= ENSP00000369941.2:n.*1339C=
ENST00000398395.8:c.*1115+650C= ENSP00000381432.5:n.*1115+650C=
ENST00000464463.6:n.1809C=
ENST00000490265.6:n.2175C=
ENST00000682237.1:c.*1206C= ENSP00000507121.1:n.*1206C=
ENST00000682562.1:c.*3048C= ENSP00000507874.1:n.*3048C=
ENST00000682953.1:c.*2373C= ENSP00000507878.1:n.*2373C=
ENST00000683055.1:c.*961C= ENSP00000508191.1:n.*961C=
ENST00000683284.1:c.*1877C= ENSP00000507837.1:n.*1877C=
ENST00000683427.1:c.*311+650C= ENSP00000507290.1:n.*311+650C=
ENST00000683454.1:n.1660C=
ENST00000683637.1:n.2755C=
ENST00000683655.1:c.*1860C= ENSP00000506770.1:n.*1860C=
ENST00000683713.1:c.*1877C= ENSP00000507797.1:n.*1877C=
ENST00000684577.1:c.*1343C= ENSP00000507871.1:n.*1343C=
ENST00000340096.11:c.1646C= MANE Select ENSP00000344314.6:p.Thr549=
ENST00000340096.10:c.1646C= ENSP00000344314.6:p.Thr549=
ENST00000380550.6:c.1526C= ENSP00000369923.3:p.Thr509=
ENST00000380567.5:c.1226C= ENSP00000369941.1:p.Thr409=
ENST00000398395.7:c.1011+650C= ENSP00000381432.4:n.1011+650C=
ENST00000490265.5:n.2621C=
NM_003611.2:c.1646C= NP_003602.1:p.Thr549=
XM_005274599.2:c.1667C= XP_005274656.1:p.Thr556=
XM_005274602.2:c.1667C= XP_005274659.1:p.Thr556=
XM_005274603.2:c.1547C= XP_005274660.1:p.Thr516=
XM_005274604.2:c.1526C= XP_005274661.1:p.Thr509=
XM_005274606.2:c.1502C= XP_005274663.1:p.Thr501=
XM_005274607.3:c.1226C= XP_005274664.1:p.Thr409=
XM_011545591.1:c.1667C= XP_011543893.1:p.Thr556=
XM_011545592.1:c.1454C= XP_011543894.1:p.Thr485=
XM_011545593.1:c.1667C= XP_011543895.1:p.Thr556=
XM_011545594.1:c.1325C= XP_011543896.1:p.Thr442=
XM_011545595.1:c.1325C= XP_011543897.1:p.Thr442=
XM_011545596.1:c.1667C= XP_011543898.1:p.Thr556=
XM_011545597.1:c.1226C= XP_011543899.1:p.Thr409=
XM_011545598.1:c.371C= XP_011543900.1:p.Thr124=
XR_247288.2:n.2006C=
NM_001330209.1:c.1526C= NP_001317138.1:p.Thr509=
NM_001330210.1:c.1226C= NP_001317139.1:p.Thr409=
XM_005274606.4:c.1502C= XP_005274663.1:p.Thr501=
XM_011545592.3:c.1454C= XP_011543894.1:p.Thr485=
XM_011545594.3:c.1325C= XP_011543896.1:p.Thr442=
XM_011545597.2:c.1226C= XP_011543899.1:p.Thr409=
XM_017029909.1:c.1226C= XP_016885398.1:p.Thr409=
XM_017029911.1:c.704C= XP_016885400.1:p.Thr235=
XM_024452468.1:c.371C= XP_024308236.1:p.Thr124=
XM_024452469.1:c.371C= XP_024308237.1:p.Thr124=
XM_024452470.1:c.371C= XP_024308238.1:p.Thr124=
XM_024452471.1:c.371C= XP_024308239.1:p.Thr124=
NM_003611.3:c.1646C= MANE Select NP_003602.1:p.Thr549=
NM_001330209.2:c.1526C= NP_001317138.1:p.Thr509=
NM_001330210.2:c.1226C= NP_001317139.1:p.Thr409=