Canonical Allele Identifier: CA412337033
Community Standard Title: NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746366C>T , CM000685.2:g.13746366C>T GRCh38
NC_000023.10:g.13764485C>T , CM000685.1:g.13764485C>T GRCh37
NC_000023.9:g.13674406C>T NCBI36
NG_008872.1:g.16654C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.565C>T MANE Select NP_003602.1:p.Gln189Ter
ENST00000340096.11:c.565C>T MANE Select ENSP00000344314.6:p.Gln189Ter
NM_001330209.1:c.565C>T NP_001317138.1:p.Gln189Ter
NM_001330209.2:c.565C>T NP_001317138.1:p.Gln189Ter
NM_001330210.1:c.145C>T NP_001317139.1:p.Gln49Ter
NM_001330210.2:c.145C>T NP_001317139.1:p.Gln49Ter
NM_003611.2:c.565C>T NP_003602.1:p.Gln189Ter
ENST00000340096.10:c.565C>T ENSP00000344314.6:p.Gln189Ter
ENST00000380550.6:c.565C>T ENSP00000369923.3:p.Gln189Ter
ENST00000380567.5:c.145C>T ENSP00000369941.1:p.Gln49Ter
ENST00000380567.6:c.*258C>T ENSP00000369941.2:n.*258C>T
ENST00000398395.7:c.154C>T ENSP00000381432.4:p.Gln52Ter
ENST00000398395.8:c.*258C>T ENSP00000381432.5:n.*258C>T
ENST00000464463.6:n.848C>T
ENST00000490265.5:n.876C>T
ENST00000490265.6:n.427C>T
ENST00000682237.1:c.565C>T ENSP00000507121.1:p.Gln189Ter
ENST00000682562.1:c.*258C>T ENSP00000507874.1:n.*258C>T
ENST00000682953.1:c.*628C>T ENSP00000507878.1:n.*628C>T
ENST00000683055.1:c.460C>T ENSP00000508191.1:p.Gln154Ter
ENST00000683284.1:c.*132C>T ENSP00000507837.1:n.*132C>T
ENST00000683427.1:c.565C>T ENSP00000507290.1:p.Gln189Ter
ENST00000683454.1:n.579C>T
ENST00000683637.1:n.1010C>T
ENST00000683655.1:c.*115C>T ENSP00000506770.1:n.*115C>T
ENST00000683713.1:c.*132C>T ENSP00000507797.1:n.*132C>T
ENST00000684577.1:c.*258C>T ENSP00000507871.1:n.*258C>T
XM_005274599.2:c.586C>T XP_005274656.1:p.Gln196Ter
XM_005274602.2:c.586C>T XP_005274659.1:p.Gln196Ter
XM_005274603.2:c.586C>T XP_005274660.1:p.Gln196Ter
XM_005274604.2:c.565C>T XP_005274661.1:p.Gln189Ter
XM_005274606.2:c.421C>T XP_005274663.1:p.Gln141Ter
XM_005274606.4:c.421C>T XP_005274663.1:p.Gln141Ter
XM_005274607.3:c.145C>T XP_005274664.1:p.Gln49Ter
XM_011545591.1:c.586C>T XP_011543893.1:p.Gln196Ter
XM_011545592.1:c.373C>T XP_011543894.1:p.Gln125Ter
XM_011545592.3:c.373C>T XP_011543894.1:p.Gln125Ter
XM_011545593.1:c.586C>T XP_011543895.1:p.Gln196Ter
XM_011545594.1:c.244C>T XP_011543896.1:p.Gln82Ter
XM_011545594.3:c.244C>T XP_011543896.1:p.Gln82Ter
XM_011545595.1:c.244C>T XP_011543897.1:p.Gln82Ter
XM_011545596.1:c.586C>T XP_011543898.1:p.Gln196Ter
XM_011545597.1:c.145C>T XP_011543899.1:p.Gln49Ter
XM_011545597.2:c.145C>T XP_011543899.1:p.Gln49Ter
XM_017029909.1:c.145C>T XP_016885398.1:p.Gln49Ter
XM_024452468.1:c.-1375C>T XP_024308236.1:n.-1375C>T
XM_024452469.1:c.-1375C>T XP_024308237.1:n.-1375C>T
XM_024452470.1:c.-1375C>T XP_024308238.1:n.-1375C>T
XM_024452471.1:c.-1375C>T XP_024308239.1:n.-1375C>T
XR_247288.2:n.925C>T