Canonical Allele Identifier: CA10352024
Community Standard Title: NM_003611.3(OFD1):c.2489-13G>A
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13763732G>A , CM000685.2:g.13763732G>A GRCh38
NC_000023.10:g.13781851G>A , CM000685.1:g.13781851G>A GRCh37
NC_000023.9:g.13691772G>A NCBI36
NG_008872.1:g.34020G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.2489-13G>A MANE Select NP_003602.1:n.2489-13G>A
ENST00000340096.11:c.2489-13G>A MANE Select ENSP00000344314.6:n.2489-13G>A
NM_001330209.1:c.2369-13G>A NP_001317138.1:n.2369-13G>A
NM_001330209.2:c.2369-13G>A NP_001317138.1:n.2369-13G>A
NM_001330210.1:c.2069-13G>A NP_001317139.1:n.2069-13G>A
NM_001330210.2:c.2069-13G>A NP_001317139.1:n.2069-13G>A
NM_003611.2:c.2489-13G>A NP_003602.1:n.2489-13G>A
ENST00000340096.10:c.2489-13G>A ENSP00000344314.6:n.2489-13G>A
ENST00000380550.6:c.2369-13G>A ENSP00000369923.3:n.2369-13G>A
ENST00000380567.5:c.2069-13G>A ENSP00000369941.1:n.2069-13G>A
ENST00000380567.6:c.*2182-13G>A ENSP00000369941.2:n.*2182-13G>A
ENST00000398395.7:c.*829-13G>A ENSP00000381432.4:n.*829-13G>A
ENST00000398395.8:c.*1950-13G>A ENSP00000381432.5:n.*1950-13G>A
ENST00000464463.5:n.309+1288G>A
ENST00000464463.6:n.4318-13G>A
ENST00000490265.5:n.3464-13G>A
ENST00000490265.6:n.3018-13G>A
ENST00000682237.1:c.*2049-13G>A ENSP00000507121.1:n.*2049-13G>A
ENST00000682562.1:c.*3890+1288G>A ENSP00000507874.1:n.*3890+1288G>A
ENST00000682953.1:c.*3215+1288G>A ENSP00000507878.1:n.*3215+1288G>A
ENST00000683055.1:c.*3469+1288G>A ENSP00000508191.1:n.*3469+1288G>A
ENST00000683284.1:c.*2720-13G>A ENSP00000507837.1:n.*2720-13G>A
ENST00000683427.1:c.*1146-13G>A ENSP00000507290.1:n.*1146-13G>A
ENST00000683454.1:n.2503-13G>A
ENST00000683637.1:n.3598-13G>A
ENST00000683655.1:c.*2703-13G>A ENSP00000506770.1:n.*2703-13G>A
ENST00000683713.1:c.*2720-13G>A ENSP00000507797.1:n.*2720-13G>A
ENST00000684577.1:c.*2185+1288G>A ENSP00000507871.1:n.*2185+1288G>A
XM_005274599.2:c.2510-13G>A XP_005274656.1:n.2510-13G>A
XM_005274602.2:c.2509+1288G>A XP_005274659.1:n.2509+1288G>A
XM_005274603.2:c.2390-13G>A XP_005274660.1:n.2390-13G>A
XM_005274604.2:c.2369-13G>A XP_005274661.1:n.2369-13G>A
XM_005274606.2:c.2345-13G>A XP_005274663.1:n.2345-13G>A
XM_005274606.4:c.2345-13G>A XP_005274663.1:n.2345-13G>A
XM_005274607.3:c.2069-13G>A XP_005274664.1:n.2069-13G>A
XM_011545591.1:c.2510-13G>A XP_011543893.1:n.2510-13G>A
XM_011545592.1:c.2297-13G>A XP_011543894.1:n.2297-13G>A
XM_011545592.3:c.2297-13G>A XP_011543894.1:n.2297-13G>A
XM_011545593.1:c.2510-13G>A XP_011543895.1:n.2510-13G>A
XM_011545594.1:c.2168-13G>A XP_011543896.1:n.2168-13G>A
XM_011545594.3:c.2168-13G>A XP_011543896.1:n.2168-13G>A
XM_011545595.1:c.2168-13G>A XP_011543897.1:n.2168-13G>A
XM_011545596.1:c.2509+1288G>A XP_011543898.1:n.2509+1288G>A
XM_011545597.1:c.2068+1288G>A XP_011543899.1:n.2068+1288G>A
XM_011545597.2:c.2068+1288G>A XP_011543899.1:n.2068+1288G>A
XM_011545598.1:c.1214-13G>A XP_011543900.1:n.1214-13G>A
XM_017029909.1:c.2069-13G>A XP_016885398.1:n.2069-13G>A
XM_017029911.1:c.1547-13G>A XP_016885400.1:n.1547-13G>A
XM_024452468.1:c.1214-13G>A XP_024308236.1:n.1214-13G>A
XM_024452469.1:c.1214-13G>A XP_024308237.1:n.1214-13G>A
XM_024452470.1:c.1214-13G>A XP_024308238.1:n.1214-13G>A
XM_024452471.1:c.1213+1288G>A XP_024308239.1:n.1213+1288G>A
XR_247288.2:n.2849-13G>A