Canonical Allele Identifier: CA412343403

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776516T>A (hg19) ; chrX:g.13758397T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758397T>A , CM000685.2:g.13758397T>A	GRCh38
NC_000023.10:g.13776516T>A , CM000685.1:g.13776516T>A	GRCh37
NC_000023.9:g.13686437T>A	NCBI36
NG_008872.1:g.28685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1296T>A	ENSP00000369941.2:n.*1296T>A
ENST00000398395.8:c.*1115+607T>A	ENSP00000381432.5:n.*1115+607T>A
ENST00000464463.6:n.1766T>A
ENST00000490265.6:n.2132T>A
ENST00000682237.1:c.*1163T>A	ENSP00000507121.1:n.*1163T>A
ENST00000682562.1:c.*3005T>A	ENSP00000507874.1:n.*3005T>A
ENST00000682953.1:c.*2330T>A	ENSP00000507878.1:n.*2330T>A
ENST00000683055.1:c.*918T>A	ENSP00000508191.1:n.*918T>A
ENST00000683284.1:c.*1834T>A	ENSP00000507837.1:n.*1834T>A
ENST00000683427.1:c.*311+607T>A	ENSP00000507290.1:n.*311+607T>A
ENST00000683454.1:n.1617T>A
ENST00000683637.1:n.2712T>A
ENST00000683655.1:c.*1817T>A	ENSP00000506770.1:n.*1817T>A
ENST00000683713.1:c.*1834T>A	ENSP00000507797.1:n.*1834T>A
ENST00000684577.1:c.*1300T>A	ENSP00000507871.1:n.*1300T>A
ENST00000340096.11:c.1603T>A MANE Select	ENSP00000344314.6:p.Leu535Ile
ENST00000340096.10:c.1603T>A	ENSP00000344314.6:p.Leu535Ile
ENST00000380550.6:c.1483T>A	ENSP00000369923.3:p.Leu495Ile
ENST00000380567.5:c.1183T>A	ENSP00000369941.1:p.Leu395Ile
ENST00000398395.7:c.1011+607T>A	ENSP00000381432.4:n.1011+607T>A
ENST00000490265.5:n.2578T>A
NM_003611.2:c.1603T>A	NP_003602.1:p.Leu535Ile
XM_005274599.2:c.1624T>A	XP_005274656.1:p.Leu542Ile
XM_005274602.2:c.1624T>A	XP_005274659.1:p.Leu542Ile
XM_005274603.2:c.1504T>A	XP_005274660.1:p.Leu502Ile
XM_005274604.2:c.1483T>A	XP_005274661.1:p.Leu495Ile
XM_005274606.2:c.1459T>A	XP_005274663.1:p.Leu487Ile
XM_005274607.3:c.1183T>A	XP_005274664.1:p.Leu395Ile
XM_011545591.1:c.1624T>A	XP_011543893.1:p.Leu542Ile
XM_011545592.1:c.1411T>A	XP_011543894.1:p.Leu471Ile
XM_011545593.1:c.1624T>A	XP_011543895.1:p.Leu542Ile
XM_011545594.1:c.1282T>A	XP_011543896.1:p.Leu428Ile
XM_011545595.1:c.1282T>A	XP_011543897.1:p.Leu428Ile
XM_011545596.1:c.1624T>A	XP_011543898.1:p.Leu542Ile
XM_011545597.1:c.1183T>A	XP_011543899.1:p.Leu395Ile
XM_011545598.1:c.328T>A	XP_011543900.1:p.Leu110Ile
XR_247288.2:n.1963T>A
NM_001330209.1:c.1483T>A	NP_001317138.1:p.Leu495Ile
NM_001330210.1:c.1183T>A	NP_001317139.1:p.Leu395Ile
XM_005274606.4:c.1459T>A	XP_005274663.1:p.Leu487Ile
XM_011545592.3:c.1411T>A	XP_011543894.1:p.Leu471Ile
XM_011545594.3:c.1282T>A	XP_011543896.1:p.Leu428Ile
XM_011545597.2:c.1183T>A	XP_011543899.1:p.Leu395Ile
XM_017029909.1:c.1183T>A	XP_016885398.1:p.Leu395Ile
XM_017029911.1:c.661T>A	XP_016885400.1:p.Leu221Ile
XM_024452468.1:c.328T>A	XP_024308236.1:p.Leu110Ile
XM_024452469.1:c.328T>A	XP_024308237.1:p.Leu110Ile
XM_024452470.1:c.328T>A	XP_024308238.1:p.Leu110Ile
XM_024452471.1:c.328T>A	XP_024308239.1:p.Leu110Ile
NM_003611.3:c.1603T>A MANE Select	NP_003602.1:p.Leu535Ile
NM_001330209.2:c.1483T>A	NP_001317138.1:p.Leu495Ile
NM_001330210.2:c.1183T>A	NP_001317139.1:p.Leu395Ile