Canonical Allele Identifier: CA412343509

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776564A>T (hg19) ; chrX:g.13758445A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758445A>T , CM000685.2:g.13758445A>T	GRCh38
NC_000023.10:g.13776564A>T , CM000685.1:g.13776564A>T	GRCh37
NC_000023.9:g.13686485A>T	NCBI36
NG_008872.1:g.28733A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1344A>T	ENSP00000369941.2:n.*1344A>T
ENST00000398395.8:c.*1115+655A>T	ENSP00000381432.5:n.*1115+655A>T
ENST00000464463.6:n.1814A>T
ENST00000490265.6:n.2180A>T
ENST00000682237.1:c.*1211A>T	ENSP00000507121.1:n.*1211A>T
ENST00000682562.1:c.*3053A>T	ENSP00000507874.1:n.*3053A>T
ENST00000682953.1:c.*2378A>T	ENSP00000507878.1:n.*2378A>T
ENST00000683055.1:c.*966A>T	ENSP00000508191.1:n.*966A>T
ENST00000683284.1:c.*1882A>T	ENSP00000507837.1:n.*1882A>T
ENST00000683427.1:c.*311+655A>T	ENSP00000507290.1:n.*311+655A>T
ENST00000683454.1:n.1665A>T
ENST00000683637.1:n.2760A>T
ENST00000683655.1:c.*1865A>T	ENSP00000506770.1:n.*1865A>T
ENST00000683713.1:c.*1882A>T	ENSP00000507797.1:n.*1882A>T
ENST00000684577.1:c.*1348A>T	ENSP00000507871.1:n.*1348A>T
ENST00000340096.11:c.1651A>T MANE Select	ENSP00000344314.6:p.Thr551Ser
ENST00000340096.10:c.1651A>T	ENSP00000344314.6:p.Thr551Ser
ENST00000380550.6:c.1531A>T	ENSP00000369923.3:p.Thr511Ser
ENST00000380567.5:c.1231A>T	ENSP00000369941.1:p.Thr411Ser
ENST00000398395.7:c.1011+655A>T	ENSP00000381432.4:n.1011+655A>T
ENST00000490265.5:n.2626A>T
NM_003611.2:c.1651A>T	NP_003602.1:p.Thr551Ser
XM_005274599.2:c.1672A>T	XP_005274656.1:p.Thr558Ser
XM_005274602.2:c.1672A>T	XP_005274659.1:p.Thr558Ser
XM_005274603.2:c.1552A>T	XP_005274660.1:p.Thr518Ser
XM_005274604.2:c.1531A>T	XP_005274661.1:p.Thr511Ser
XM_005274606.2:c.1507A>T	XP_005274663.1:p.Thr503Ser
XM_005274607.3:c.1231A>T	XP_005274664.1:p.Thr411Ser
XM_011545591.1:c.1672A>T	XP_011543893.1:p.Thr558Ser
XM_011545592.1:c.1459A>T	XP_011543894.1:p.Thr487Ser
XM_011545593.1:c.1672A>T	XP_011543895.1:p.Thr558Ser
XM_011545594.1:c.1330A>T	XP_011543896.1:p.Thr444Ser
XM_011545595.1:c.1330A>T	XP_011543897.1:p.Thr444Ser
XM_011545596.1:c.1672A>T	XP_011543898.1:p.Thr558Ser
XM_011545597.1:c.1231A>T	XP_011543899.1:p.Thr411Ser
XM_011545598.1:c.376A>T	XP_011543900.1:p.Thr126Ser
XR_247288.2:n.2011A>T
NM_001330209.1:c.1531A>T	NP_001317138.1:p.Thr511Ser
NM_001330210.1:c.1231A>T	NP_001317139.1:p.Thr411Ser
XM_005274606.4:c.1507A>T	XP_005274663.1:p.Thr503Ser
XM_011545592.3:c.1459A>T	XP_011543894.1:p.Thr487Ser
XM_011545594.3:c.1330A>T	XP_011543896.1:p.Thr444Ser
XM_011545597.2:c.1231A>T	XP_011543899.1:p.Thr411Ser
XM_017029909.1:c.1231A>T	XP_016885398.1:p.Thr411Ser
XM_017029911.1:c.709A>T	XP_016885400.1:p.Thr237Ser
XM_024452468.1:c.376A>T	XP_024308236.1:p.Thr126Ser
XM_024452469.1:c.376A>T	XP_024308237.1:p.Thr126Ser
XM_024452470.1:c.376A>T	XP_024308238.1:p.Thr126Ser
XM_024452471.1:c.376A>T	XP_024308239.1:p.Thr126Ser
NM_003611.3:c.1651A>T MANE Select	NP_003602.1:p.Thr551Ser
NM_001330209.2:c.1531A>T	NP_001317138.1:p.Thr511Ser
NM_001330210.2:c.1231A>T	NP_001317139.1:p.Thr411Ser