Canonical Allele Identifier: CA2416371734
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13758434A= , CM000685.2:g.13758434A= GRCh38
NC_000023.10:g.13776553A= , CM000685.1:g.13776553A= GRCh37
NC_000023.9:g.13686474A= NCBI36
NG_008872.1:g.28722A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.*1333A= ENSP00000369941.2:n.*1333A=
ENST00000398395.8:c.*1115+644A= ENSP00000381432.5:n.*1115+644A=
ENST00000464463.6:n.1803A=
ENST00000490265.6:n.2169A=
ENST00000682237.1:c.*1200A= ENSP00000507121.1:n.*1200A=
ENST00000682562.1:c.*3042A= ENSP00000507874.1:n.*3042A=
ENST00000682953.1:c.*2367A= ENSP00000507878.1:n.*2367A=
ENST00000683055.1:c.*955A= ENSP00000508191.1:n.*955A=
ENST00000683284.1:c.*1871A= ENSP00000507837.1:n.*1871A=
ENST00000683427.1:c.*311+644A= ENSP00000507290.1:n.*311+644A=
ENST00000683454.1:n.1654A=
ENST00000683637.1:n.2749A=
ENST00000683655.1:c.*1854A= ENSP00000506770.1:n.*1854A=
ENST00000683713.1:c.*1871A= ENSP00000507797.1:n.*1871A=
ENST00000684577.1:c.*1337A= ENSP00000507871.1:n.*1337A=
ENST00000340096.11:c.1640A= MANE Select ENSP00000344314.6:p.Lys547=
ENST00000340096.10:c.1640A= ENSP00000344314.6:p.Lys547=
ENST00000380550.6:c.1520A= ENSP00000369923.3:p.Lys507=
ENST00000380567.5:c.1220A= ENSP00000369941.1:p.Lys407=
ENST00000398395.7:c.1011+644A= ENSP00000381432.4:n.1011+644A=
ENST00000490265.5:n.2615A=
NM_003611.2:c.1640A= NP_003602.1:p.Lys547=
XM_005274599.2:c.1661A= XP_005274656.1:p.Lys554=
XM_005274602.2:c.1661A= XP_005274659.1:p.Lys554=
XM_005274603.2:c.1541A= XP_005274660.1:p.Lys514=
XM_005274604.2:c.1520A= XP_005274661.1:p.Lys507=
XM_005274606.2:c.1496A= XP_005274663.1:p.Lys499=
XM_005274607.3:c.1220A= XP_005274664.1:p.Lys407=
XM_011545591.1:c.1661A= XP_011543893.1:p.Lys554=
XM_011545592.1:c.1448A= XP_011543894.1:p.Lys483=
XM_011545593.1:c.1661A= XP_011543895.1:p.Lys554=
XM_011545594.1:c.1319A= XP_011543896.1:p.Lys440=
XM_011545595.1:c.1319A= XP_011543897.1:p.Lys440=
XM_011545596.1:c.1661A= XP_011543898.1:p.Lys554=
XM_011545597.1:c.1220A= XP_011543899.1:p.Lys407=
XM_011545598.1:c.365A= XP_011543900.1:p.Lys122=
XR_247288.2:n.2000A=
NM_001330209.1:c.1520A= NP_001317138.1:p.Lys507=
NM_001330210.1:c.1220A= NP_001317139.1:p.Lys407=
XM_005274606.4:c.1496A= XP_005274663.1:p.Lys499=
XM_011545592.3:c.1448A= XP_011543894.1:p.Lys483=
XM_011545594.3:c.1319A= XP_011543896.1:p.Lys440=
XM_011545597.2:c.1220A= XP_011543899.1:p.Lys407=
XM_017029909.1:c.1220A= XP_016885398.1:p.Lys407=
XM_017029911.1:c.698A= XP_016885400.1:p.Lys233=
XM_024452468.1:c.365A= XP_024308236.1:p.Lys122=
XM_024452469.1:c.365A= XP_024308237.1:p.Lys122=
XM_024452470.1:c.365A= XP_024308238.1:p.Lys122=
XM_024452471.1:c.365A= XP_024308239.1:p.Lys122=
NM_003611.3:c.1640A= MANE Select NP_003602.1:p.Lys547=
NM_001330209.2:c.1520A= NP_001317138.1:p.Lys507=
NM_001330210.2:c.1220A= NP_001317139.1:p.Lys407=