Canonical Allele Identifier: CA515466154

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776521T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758402T>C , CM000685.2:g.13758402T>C	GRCh38
NC_000023.10:g.13776521T>C , CM000685.1:g.13776521T>C	GRCh37
NC_000023.9:g.13686442T>C	NCBI36
NG_008872.1:g.28690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1301T>C	ENSP00000369941.2:n.*1301T>C
ENST00000398395.8:c.*1115+612T>C	ENSP00000381432.5:n.*1115+612T>C
ENST00000464463.6:n.1771T>C
ENST00000490265.6:n.2137T>C
ENST00000682237.1:c.*1168T>C	ENSP00000507121.1:n.*1168T>C
ENST00000682562.1:c.*3010T>C	ENSP00000507874.1:n.*3010T>C
ENST00000682953.1:c.*2335T>C	ENSP00000507878.1:n.*2335T>C
ENST00000683055.1:c.*923T>C	ENSP00000508191.1:n.*923T>C
ENST00000683284.1:c.*1839T>C	ENSP00000507837.1:n.*1839T>C
ENST00000683427.1:c.*311+612T>C	ENSP00000507290.1:n.*311+612T>C
ENST00000683454.1:n.1622T>C
ENST00000683637.1:n.2717T>C
ENST00000683655.1:c.*1822T>C	ENSP00000506770.1:n.*1822T>C
ENST00000683713.1:c.*1839T>C	ENSP00000507797.1:n.*1839T>C
ENST00000684577.1:c.*1305T>C	ENSP00000507871.1:n.*1305T>C
ENST00000340096.11:c.1608T>C MANE Select	ENSP00000344314.6:p.Thr536=
ENST00000340096.10:c.1608T>C	ENSP00000344314.6:p.Thr536=
ENST00000380550.6:c.1488T>C	ENSP00000369923.3:p.Thr496=
ENST00000380567.5:c.1188T>C	ENSP00000369941.1:p.Thr396=
ENST00000398395.7:c.1011+612T>C	ENSP00000381432.4:n.1011+612T>C
ENST00000490265.5:n.2583T>C
NM_003611.2:c.1608T>C	NP_003602.1:p.Thr536=
XM_005274599.2:c.1629T>C	XP_005274656.1:p.Thr543=
XM_005274602.2:c.1629T>C	XP_005274659.1:p.Thr543=
XM_005274603.2:c.1509T>C	XP_005274660.1:p.Thr503=
XM_005274604.2:c.1488T>C	XP_005274661.1:p.Thr496=
XM_005274606.2:c.1464T>C	XP_005274663.1:p.Thr488=
XM_005274607.3:c.1188T>C	XP_005274664.1:p.Thr396=
XM_011545591.1:c.1629T>C	XP_011543893.1:p.Thr543=
XM_011545592.1:c.1416T>C	XP_011543894.1:p.Thr472=
XM_011545593.1:c.1629T>C	XP_011543895.1:p.Thr543=
XM_011545594.1:c.1287T>C	XP_011543896.1:p.Thr429=
XM_011545595.1:c.1287T>C	XP_011543897.1:p.Thr429=
XM_011545596.1:c.1629T>C	XP_011543898.1:p.Thr543=
XM_011545597.1:c.1188T>C	XP_011543899.1:p.Thr396=
XM_011545598.1:c.333T>C	XP_011543900.1:p.Thr111=
XR_247288.2:n.1968T>C
NM_001330209.1:c.1488T>C	NP_001317138.1:p.Thr496=
NM_001330210.1:c.1188T>C	NP_001317139.1:p.Thr396=
XM_005274606.4:c.1464T>C	XP_005274663.1:p.Thr488=
XM_011545592.3:c.1416T>C	XP_011543894.1:p.Thr472=
XM_011545594.3:c.1287T>C	XP_011543896.1:p.Thr429=
XM_011545597.2:c.1188T>C	XP_011543899.1:p.Thr396=
XM_017029909.1:c.1188T>C	XP_016885398.1:p.Thr396=
XM_017029911.1:c.666T>C	XP_016885400.1:p.Thr222=
XM_024452468.1:c.333T>C	XP_024308236.1:p.Thr111=
XM_024452469.1:c.333T>C	XP_024308237.1:p.Thr111=
XM_024452470.1:c.333T>C	XP_024308238.1:p.Thr111=
XM_024452471.1:c.333T>C	XP_024308239.1:p.Thr111=
NM_003611.3:c.1608T>C MANE Select	NP_003602.1:p.Thr536=
NM_001330209.2:c.1488T>C	NP_001317138.1:p.Thr496=
NM_001330210.2:c.1188T>C	NP_001317139.1:p.Thr396=