Canonical Allele Identifier: CA2416372635
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13761102A= , CM000685.2:g.13761102A= GRCh38
NC_000023.10:g.13779221A= , CM000685.1:g.13779221A= GRCh37
NC_000023.9:g.13689142A= NCBI36
NG_008872.1:g.31390A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.*1971A= ENSP00000369941.2:n.*1971A=
ENST00000398395.8:c.*1739A= ENSP00000381432.5:n.*1739A=
ENST00000464463.6:n.4107A=
ENST00000490265.6:n.2807A=
ENST00000682237.1:c.*1838A= ENSP00000507121.1:n.*1838A=
ENST00000682562.1:c.*3680A= ENSP00000507874.1:n.*3680A=
ENST00000682953.1:c.*3005A= ENSP00000507878.1:n.*3005A=
ENST00000683055.1:c.*3259A= ENSP00000508191.1:n.*3259A=
ENST00000683284.1:c.*2509A= ENSP00000507837.1:n.*2509A=
ENST00000683427.1:c.*935A= ENSP00000507290.1:n.*935A=
ENST00000683454.1:n.2292A=
ENST00000683637.1:n.3387A=
ENST00000683655.1:c.*2492A= ENSP00000506770.1:n.*2492A=
ENST00000683713.1:c.*2509A= ENSP00000507797.1:n.*2509A=
ENST00000684577.1:c.*1975A= ENSP00000507871.1:n.*1975A=
ENST00000340096.11:c.2278A= MANE Select ENSP00000344314.6:p.Ile760=
ENST00000340096.10:c.2278A= ENSP00000344314.6:p.Ile760=
ENST00000380550.6:c.2158A= ENSP00000369923.3:p.Ile720=
ENST00000380567.5:c.1858A= ENSP00000369941.1:p.Ile620=
ENST00000398395.7:c.*618A= ENSP00000381432.4:n.*618A=
ENST00000464463.5:n.99A=
ENST00000490265.5:n.3253A=
NM_003611.2:c.2278A= NP_003602.1:p.Ile760=
XM_005274599.2:c.2299A= XP_005274656.1:p.Ile767=
XM_005274602.2:c.2299A= XP_005274659.1:p.Ile767=
XM_005274603.2:c.2179A= XP_005274660.1:p.Ile727=
XM_005274604.2:c.2158A= XP_005274661.1:p.Ile720=
XM_005274606.2:c.2134A= XP_005274663.1:p.Ile712=
XM_005274607.3:c.1858A= XP_005274664.1:p.Ile620=
XM_011545591.1:c.2299A= XP_011543893.1:p.Ile767=
XM_011545592.1:c.2086A= XP_011543894.1:p.Ile696=
XM_011545593.1:c.2299A= XP_011543895.1:p.Ile767=
XM_011545594.1:c.1957A= XP_011543896.1:p.Ile653=
XM_011545595.1:c.1957A= XP_011543897.1:p.Ile653=
XM_011545596.1:c.2299A= XP_011543898.1:p.Ile767=
XM_011545597.1:c.1858A= XP_011543899.1:p.Ile620=
XM_011545598.1:c.1003A= XP_011543900.1:p.Ile335=
XR_247288.2:n.2638A=
NM_001330209.1:c.2158A= NP_001317138.1:p.Ile720=
NM_001330210.1:c.1858A= NP_001317139.1:p.Ile620=
XM_005274606.4:c.2134A= XP_005274663.1:p.Ile712=
XM_011545592.3:c.2086A= XP_011543894.1:p.Ile696=
XM_011545594.3:c.1957A= XP_011543896.1:p.Ile653=
XM_011545597.2:c.1858A= XP_011543899.1:p.Ile620=
XM_017029909.1:c.1858A= XP_016885398.1:p.Ile620=
XM_017029911.1:c.1336A= XP_016885400.1:p.Ile446=
XM_024452468.1:c.1003A= XP_024308236.1:p.Ile335=
XM_024452469.1:c.1003A= XP_024308237.1:p.Ile335=
XM_024452470.1:c.1003A= XP_024308238.1:p.Ile335=
XM_024452471.1:c.1003A= XP_024308239.1:p.Ile335=
NM_003611.3:c.2278A= MANE Select NP_003602.1:p.Ile760=
NM_001330209.2:c.2158A= NP_001317138.1:p.Ile720=
NM_001330210.2:c.1858A= NP_001317139.1:p.Ile620=