Canonical Allele Identifier: CA412341900

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13753426G>T , CM000685.2:g.13753426G>T	GRCh38
NC_000023.10:g.13771545G>T , CM000685.1:g.13771545G>T	GRCh37
NC_000023.9:g.13681466G>T	NCBI36
NG_008872.1:g.23714G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1114G>T MANE Select	NP_003602.1:p.Glu372Ter
ENST00000340096.11:c.1114G>T MANE Select	ENSP00000344314.6:p.Glu372Ter
NM_001330209.1:c.994G>T	NP_001317138.1:p.Glu332Ter
NM_001330209.2:c.994G>T	NP_001317138.1:p.Glu332Ter
NM_001330210.1:c.694G>T	NP_001317139.1:p.Glu232Ter
NM_001330210.2:c.694G>T	NP_001317139.1:p.Glu232Ter
NM_003611.2:c.1114G>T	NP_003602.1:p.Glu372Ter
ENST00000340096.10:c.1114G>T	ENSP00000344314.6:p.Glu372Ter
ENST00000380550.6:c.994G>T	ENSP00000369923.3:p.Glu332Ter
ENST00000380567.5:c.694G>T	ENSP00000369941.1:p.Glu232Ter
ENST00000380567.6:c.*807G>T	ENSP00000369941.2:n.*807G>T
ENST00000398395.7:c.583G>T	ENSP00000381432.4:p.Glu195Ter
ENST00000398395.8:c.*687G>T	ENSP00000381432.5:n.*687G>T
ENST00000464463.6:n.1277G>T
ENST00000490265.5:n.2089G>T
ENST00000490265.6:n.1643G>T
ENST00000682237.1:c.*674G>T	ENSP00000507121.1:n.*674G>T
ENST00000682562.1:c.*807G>T	ENSP00000507874.1:n.*807G>T
ENST00000682953.1:c.*1841G>T	ENSP00000507878.1:n.*1841G>T
ENST00000683055.1:c.831-3152G>T	ENSP00000508191.1:n.831-3152G>T
ENST00000683065.1:n.403G>T
ENST00000683284.1:c.*1345G>T	ENSP00000507837.1:n.*1345G>T
ENST00000683427.1:c.936-3152G>T	ENSP00000507290.1:n.936-3152G>T
ENST00000683454.1:n.1128G>T
ENST00000683637.1:n.2223G>T
ENST00000683655.1:c.*1328G>T	ENSP00000506770.1:n.*1328G>T
ENST00000683713.1:c.*1345G>T	ENSP00000507797.1:n.*1345G>T
ENST00000684577.1:c.*807G>T	ENSP00000507871.1:n.*807G>T
XM_005274599.2:c.1135G>T	XP_005274656.1:p.Glu379Ter
XM_005274602.2:c.1135G>T	XP_005274659.1:p.Glu379Ter
XM_005274603.2:c.1015G>T	XP_005274660.1:p.Glu339Ter
XM_005274604.2:c.994G>T	XP_005274661.1:p.Glu332Ter
XM_005274606.2:c.970G>T	XP_005274663.1:p.Glu324Ter
XM_005274606.4:c.970G>T	XP_005274663.1:p.Glu324Ter
XM_005274607.3:c.694G>T	XP_005274664.1:p.Glu232Ter
XM_011545591.1:c.1135G>T	XP_011543893.1:p.Glu379Ter
XM_011545592.1:c.922G>T	XP_011543894.1:p.Glu308Ter
XM_011545592.3:c.922G>T	XP_011543894.1:p.Glu308Ter
XM_011545593.1:c.1135G>T	XP_011543895.1:p.Glu379Ter
XM_011545594.1:c.793G>T	XP_011543896.1:p.Glu265Ter
XM_011545594.3:c.793G>T	XP_011543896.1:p.Glu265Ter
XM_011545595.1:c.793G>T	XP_011543897.1:p.Glu265Ter
XM_011545596.1:c.1135G>T	XP_011543898.1:p.Glu379Ter
XM_011545597.1:c.694G>T	XP_011543899.1:p.Glu232Ter
XM_011545597.2:c.694G>T	XP_011543899.1:p.Glu232Ter
XM_011545598.1:c.-55+2058G>T	XP_011543900.1:n.-55+2058G>T
XM_017029909.1:c.694G>T	XP_016885398.1:p.Glu232Ter
XM_017029911.1:c.172G>T	XP_016885400.1:p.Glu58Ter
XM_024452468.1:c.-162G>T	XP_024308236.1:n.-162G>T
XM_024452469.1:c.-162G>T	XP_024308237.1:n.-162G>T
XM_024452470.1:c.-162G>T	XP_024308238.1:n.-162G>T
XM_024452471.1:c.-162G>T	XP_024308239.1:n.-162G>T
XR_247288.2:n.1474G>T