Canonical Allele Identifier: CA2416371154
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13756659A= , CM000685.2:g.13756659A= GRCh38
NC_000023.10:g.13774778A= , CM000685.1:g.13774778A= GRCh37
NC_000023.9:g.13684699A= NCBI36
NG_008872.1:g.26947A=

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.1303A= MANE Select NP_003602.1:p.Ser435=
ENST00000340096.11:c.1303A= MANE Select ENSP00000344314.6:p.Ser435=
NM_001330209.1:c.1183A= NP_001317138.1:p.Ser395=
NM_001330209.2:c.1183A= NP_001317138.1:p.Ser395=
NM_001330210.1:c.883A= NP_001317139.1:p.Ser295=
NM_001330210.2:c.883A= NP_001317139.1:p.Ser295=
NM_003611.2:c.1303A= NP_003602.1:p.Ser435=
ENST00000340096.10:c.1303A= ENSP00000344314.6:p.Ser435=
ENST00000380550.6:c.1183A= ENSP00000369923.3:p.Ser395=
ENST00000380567.5:c.883A= ENSP00000369941.1:p.Ser295=
ENST00000380567.6:c.*996A= ENSP00000369941.2:n.*996A=
ENST00000398395.7:c.772A= ENSP00000381432.4:p.Ser258=
ENST00000398395.8:c.*876A= ENSP00000381432.5:n.*876A=
ENST00000464463.6:n.1466A=
ENST00000490265.5:n.2278A=
ENST00000490265.6:n.1832A=
ENST00000682237.1:c.*863A= ENSP00000507121.1:n.*863A=
ENST00000682562.1:c.*2705A= ENSP00000507874.1:n.*2705A=
ENST00000682953.1:c.*2030A= ENSP00000507878.1:n.*2030A=
ENST00000683055.1:c.*72A= ENSP00000508191.1:n.*72A=
ENST00000683284.1:c.*1534A= ENSP00000507837.1:n.*1534A=
ENST00000683427.1:c.*72A= ENSP00000507290.1:n.*72A=
ENST00000683454.1:n.1317A=
ENST00000683637.1:n.2412A=
ENST00000683655.1:c.*1517A= ENSP00000506770.1:n.*1517A=
ENST00000683713.1:c.*1534A= ENSP00000507797.1:n.*1534A=
ENST00000684577.1:c.*996A= ENSP00000507871.1:n.*996A=
XM_005274599.2:c.1324A= XP_005274656.1:p.Ser442=
XM_005274602.2:c.1324A= XP_005274659.1:p.Ser442=
XM_005274603.2:c.1204A= XP_005274660.1:p.Ser402=
XM_005274604.2:c.1183A= XP_005274661.1:p.Ser395=
XM_005274606.2:c.1159A= XP_005274663.1:p.Ser387=
XM_005274606.4:c.1159A= XP_005274663.1:p.Ser387=
XM_005274607.3:c.883A= XP_005274664.1:p.Ser295=
XM_011545591.1:c.1324A= XP_011543893.1:p.Ser442=
XM_011545592.1:c.1111A= XP_011543894.1:p.Ser371=
XM_011545592.3:c.1111A= XP_011543894.1:p.Ser371=
XM_011545593.1:c.1324A= XP_011543895.1:p.Ser442=
XM_011545594.1:c.982A= XP_011543896.1:p.Ser328=
XM_011545594.3:c.982A= XP_011543896.1:p.Ser328=
XM_011545595.1:c.982A= XP_011543897.1:p.Ser328=
XM_011545596.1:c.1324A= XP_011543898.1:p.Ser442=
XM_011545597.1:c.883A= XP_011543899.1:p.Ser295=
XM_011545597.2:c.883A= XP_011543899.1:p.Ser295=
XM_011545598.1:c.28A= XP_011543900.1:p.Ser10=
XM_017029909.1:c.883A= XP_016885398.1:p.Ser295=
XM_017029911.1:c.361A= XP_016885400.1:p.Ser121=
XM_024452468.1:c.28A= XP_024308236.1:p.Ser10=
XM_024452469.1:c.28A= XP_024308237.1:p.Ser10=
XM_024452470.1:c.28A= XP_024308238.1:p.Ser10=
XM_024452471.1:c.28A= XP_024308239.1:p.Ser10=
XR_247288.2:n.1663A=