Canonical Allele Identifier: CA10351672
Community Standard Title: NM_003611.3(OFD1):c.675C>T (p.Thr225=)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746800C>T , CM000685.2:g.13746800C>T GRCh38
NC_000023.10:g.13764919C>T , CM000685.1:g.13764919C>T GRCh37
NC_000023.9:g.13674840C>T NCBI36
NG_008872.1:g.17088C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.675C>T MANE Select NP_003602.1:p.Thr225=
ENST00000340096.11:c.675C>T MANE Select ENSP00000344314.6:p.Thr225=
NM_001330209.1:c.675C>T NP_001317138.1:p.Thr225=
NM_001330209.2:c.675C>T NP_001317138.1:p.Thr225=
NM_001330210.1:c.255C>T NP_001317139.1:p.Thr85=
NM_001330210.2:c.255C>T NP_001317139.1:p.Thr85=
NM_003611.2:c.675C>T NP_003602.1:p.Thr225=
ENST00000340096.10:c.675C>T ENSP00000344314.6:p.Thr225=
ENST00000380550.6:c.675C>T ENSP00000369923.3:p.Thr225=
ENST00000380567.5:c.255C>T ENSP00000369941.1:p.Thr85=
ENST00000380567.6:c.*368C>T ENSP00000369941.2:n.*368C>T
ENST00000398395.7:c.264C>T ENSP00000381432.4:p.Thr88=
ENST00000398395.8:c.*368C>T ENSP00000381432.5:n.*368C>T
ENST00000464463.6:n.958C>T
ENST00000490265.5:n.986C>T
ENST00000490265.6:n.537C>T
ENST00000682237.1:c.675C>T ENSP00000507121.1:p.Thr225=
ENST00000682562.1:c.*368C>T ENSP00000507874.1:n.*368C>T
ENST00000682953.1:c.*738C>T ENSP00000507878.1:n.*738C>T
ENST00000683055.1:c.570C>T ENSP00000508191.1:p.Thr190=
ENST00000683065.1:n.84C>T
ENST00000683284.1:c.*242C>T ENSP00000507837.1:n.*242C>T
ENST00000683427.1:c.675C>T ENSP00000507290.1:p.Thr225=
ENST00000683454.1:n.689C>T
ENST00000683637.1:n.1120C>T
ENST00000683655.1:c.*225C>T ENSP00000506770.1:n.*225C>T
ENST00000683713.1:c.*242C>T ENSP00000507797.1:n.*242C>T
ENST00000684577.1:c.*368C>T ENSP00000507871.1:n.*368C>T
XM_005274599.2:c.696C>T XP_005274656.1:p.Thr232=
XM_005274602.2:c.696C>T XP_005274659.1:p.Thr232=
XM_005274603.2:c.696C>T XP_005274660.1:p.Thr232=
XM_005274604.2:c.675C>T XP_005274661.1:p.Thr225=
XM_005274606.2:c.531C>T XP_005274663.1:p.Thr177=
XM_005274606.4:c.531C>T XP_005274663.1:p.Thr177=
XM_005274607.3:c.255C>T XP_005274664.1:p.Thr85=
XM_011545591.1:c.696C>T XP_011543893.1:p.Thr232=
XM_011545592.1:c.483C>T XP_011543894.1:p.Thr161=
XM_011545592.3:c.483C>T XP_011543894.1:p.Thr161=
XM_011545593.1:c.696C>T XP_011543895.1:p.Thr232=
XM_011545594.1:c.354C>T XP_011543896.1:p.Thr118=
XM_011545594.3:c.354C>T XP_011543896.1:p.Thr118=
XM_011545595.1:c.354C>T XP_011543897.1:p.Thr118=
XM_011545596.1:c.696C>T XP_011543898.1:p.Thr232=
XM_011545597.1:c.255C>T XP_011543899.1:p.Thr85=
XM_011545597.2:c.255C>T XP_011543899.1:p.Thr85=
XM_017029909.1:c.255C>T XP_016885398.1:p.Thr85=
XM_024452468.1:c.-1265C>T XP_024308236.1:n.-1265C>T
XM_024452469.1:c.-1265C>T XP_024308237.1:n.-1265C>T
XM_024452470.1:c.-1265C>T XP_024308238.1:n.-1265C>T
XM_024452471.1:c.-1265C>T XP_024308239.1:n.-1265C>T
XR_247288.2:n.1035C>T