Canonical Allele Identifier: CA515466197

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776566A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758447A>C , CM000685.2:g.13758447A>C	GRCh38
NC_000023.10:g.13776566A>C , CM000685.1:g.13776566A>C	GRCh37
NC_000023.9:g.13686487A>C	NCBI36
NG_008872.1:g.28735A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1346A>C	ENSP00000369941.2:n.*1346A>C
ENST00000398395.8:c.*1115+657A>C	ENSP00000381432.5:n.*1115+657A>C
ENST00000464463.6:n.1816A>C
ENST00000490265.6:n.2182A>C
ENST00000682237.1:c.*1213A>C	ENSP00000507121.1:n.*1213A>C
ENST00000682562.1:c.*3055A>C	ENSP00000507874.1:n.*3055A>C
ENST00000682953.1:c.*2380A>C	ENSP00000507878.1:n.*2380A>C
ENST00000683055.1:c.*968A>C	ENSP00000508191.1:n.*968A>C
ENST00000683284.1:c.*1884A>C	ENSP00000507837.1:n.*1884A>C
ENST00000683427.1:c.*311+657A>C	ENSP00000507290.1:n.*311+657A>C
ENST00000683454.1:n.1667A>C
ENST00000683637.1:n.2762A>C
ENST00000683655.1:c.*1867A>C	ENSP00000506770.1:n.*1867A>C
ENST00000683713.1:c.*1884A>C	ENSP00000507797.1:n.*1884A>C
ENST00000684577.1:c.*1350A>C	ENSP00000507871.1:n.*1350A>C
ENST00000340096.11:c.1653A>C MANE Select	ENSP00000344314.6:p.Thr551=
ENST00000340096.10:c.1653A>C	ENSP00000344314.6:p.Thr551=
ENST00000380550.6:c.1533A>C	ENSP00000369923.3:p.Thr511=
ENST00000380567.5:c.1233A>C	ENSP00000369941.1:p.Thr411=
ENST00000398395.7:c.1011+657A>C	ENSP00000381432.4:n.1011+657A>C
ENST00000490265.5:n.2628A>C
NM_003611.2:c.1653A>C	NP_003602.1:p.Thr551=
XM_005274599.2:c.1674A>C	XP_005274656.1:p.Thr558=
XM_005274602.2:c.1674A>C	XP_005274659.1:p.Thr558=
XM_005274603.2:c.1554A>C	XP_005274660.1:p.Thr518=
XM_005274604.2:c.1533A>C	XP_005274661.1:p.Thr511=
XM_005274606.2:c.1509A>C	XP_005274663.1:p.Thr503=
XM_005274607.3:c.1233A>C	XP_005274664.1:p.Thr411=
XM_011545591.1:c.1674A>C	XP_011543893.1:p.Thr558=
XM_011545592.1:c.1461A>C	XP_011543894.1:p.Thr487=
XM_011545593.1:c.1674A>C	XP_011543895.1:p.Thr558=
XM_011545594.1:c.1332A>C	XP_011543896.1:p.Thr444=
XM_011545595.1:c.1332A>C	XP_011543897.1:p.Thr444=
XM_011545596.1:c.1674A>C	XP_011543898.1:p.Thr558=
XM_011545597.1:c.1233A>C	XP_011543899.1:p.Thr411=
XM_011545598.1:c.378A>C	XP_011543900.1:p.Thr126=
XR_247288.2:n.2013A>C
NM_001330209.1:c.1533A>C	NP_001317138.1:p.Thr511=
NM_001330210.1:c.1233A>C	NP_001317139.1:p.Thr411=
XM_005274606.4:c.1509A>C	XP_005274663.1:p.Thr503=
XM_011545592.3:c.1461A>C	XP_011543894.1:p.Thr487=
XM_011545594.3:c.1332A>C	XP_011543896.1:p.Thr444=
XM_011545597.2:c.1233A>C	XP_011543899.1:p.Thr411=
XM_017029909.1:c.1233A>C	XP_016885398.1:p.Thr411=
XM_017029911.1:c.711A>C	XP_016885400.1:p.Thr237=
XM_024452468.1:c.378A>C	XP_024308236.1:p.Thr126=
XM_024452469.1:c.378A>C	XP_024308237.1:p.Thr126=
XM_024452470.1:c.378A>C	XP_024308238.1:p.Thr126=
XM_024452471.1:c.378A>C	XP_024308239.1:p.Thr126=
NM_003611.3:c.1653A>C MANE Select	NP_003602.1:p.Thr551=
NM_001330209.2:c.1533A>C	NP_001317138.1:p.Thr511=
NM_001330210.2:c.1233A>C	NP_001317139.1:p.Thr411=