Canonical Allele Identifier: CA2416371719
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13758390A= , CM000685.2:g.13758390A= GRCh38
NC_000023.10:g.13776509A= , CM000685.1:g.13776509A= GRCh37
NC_000023.9:g.13686430A= NCBI36
NG_008872.1:g.28678A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.*1289A= ENSP00000369941.2:n.*1289A=
ENST00000398395.8:c.*1115+600A= ENSP00000381432.5:n.*1115+600A=
ENST00000464463.6:n.1759A=
ENST00000490265.6:n.2125A=
ENST00000682237.1:c.*1156A= ENSP00000507121.1:n.*1156A=
ENST00000682562.1:c.*2998A= ENSP00000507874.1:n.*2998A=
ENST00000682953.1:c.*2323A= ENSP00000507878.1:n.*2323A=
ENST00000683055.1:c.*911A= ENSP00000508191.1:n.*911A=
ENST00000683284.1:c.*1827A= ENSP00000507837.1:n.*1827A=
ENST00000683427.1:c.*311+600A= ENSP00000507290.1:n.*311+600A=
ENST00000683454.1:n.1610A=
ENST00000683637.1:n.2705A=
ENST00000683655.1:c.*1810A= ENSP00000506770.1:n.*1810A=
ENST00000683713.1:c.*1827A= ENSP00000507797.1:n.*1827A=
ENST00000684577.1:c.*1293A= ENSP00000507871.1:n.*1293A=
ENST00000340096.11:c.1596A= MANE Select ENSP00000344314.6:p.Val532=
ENST00000340096.10:c.1596A= ENSP00000344314.6:p.Val532=
ENST00000380550.6:c.1476A= ENSP00000369923.3:p.Val492=
ENST00000380567.5:c.1176A= ENSP00000369941.1:p.Val392=
ENST00000398395.7:c.1011+600A= ENSP00000381432.4:n.1011+600A=
ENST00000490265.5:n.2571A=
NM_003611.2:c.1596A= NP_003602.1:p.Val532=
XM_005274599.2:c.1617A= XP_005274656.1:p.Val539=
XM_005274602.2:c.1617A= XP_005274659.1:p.Val539=
XM_005274603.2:c.1497A= XP_005274660.1:p.Val499=
XM_005274604.2:c.1476A= XP_005274661.1:p.Val492=
XM_005274606.2:c.1452A= XP_005274663.1:p.Val484=
XM_005274607.3:c.1176A= XP_005274664.1:p.Val392=
XM_011545591.1:c.1617A= XP_011543893.1:p.Val539=
XM_011545592.1:c.1404A= XP_011543894.1:p.Val468=
XM_011545593.1:c.1617A= XP_011543895.1:p.Val539=
XM_011545594.1:c.1275A= XP_011543896.1:p.Val425=
XM_011545595.1:c.1275A= XP_011543897.1:p.Val425=
XM_011545596.1:c.1617A= XP_011543898.1:p.Val539=
XM_011545597.1:c.1176A= XP_011543899.1:p.Val392=
XM_011545598.1:c.321A= XP_011543900.1:p.Val107=
XR_247288.2:n.1956A=
NM_001330209.1:c.1476A= NP_001317138.1:p.Val492=
NM_001330210.1:c.1176A= NP_001317139.1:p.Val392=
XM_005274606.4:c.1452A= XP_005274663.1:p.Val484=
XM_011545592.3:c.1404A= XP_011543894.1:p.Val468=
XM_011545594.3:c.1275A= XP_011543896.1:p.Val425=
XM_011545597.2:c.1176A= XP_011543899.1:p.Val392=
XM_017029909.1:c.1176A= XP_016885398.1:p.Val392=
XM_017029911.1:c.654A= XP_016885400.1:p.Val218=
XM_024452468.1:c.321A= XP_024308236.1:p.Val107=
XM_024452469.1:c.321A= XP_024308237.1:p.Val107=
XM_024452470.1:c.321A= XP_024308238.1:p.Val107=
XM_024452471.1:c.321A= XP_024308239.1:p.Val107=
NM_003611.3:c.1596A= MANE Select NP_003602.1:p.Val532=
NM_001330209.2:c.1476A= NP_001317138.1:p.Val492=
NM_001330210.2:c.1176A= NP_001317139.1:p.Val392=