Canonical Allele Identifier: CA412343468

Gene: OFD1

Linked Data

• gnomAD v4: X-13758427-C-T
• MyVariant Identifiers: chrX:g.13776546C>T (hg19) ; chrX:g.13758427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758427C>T , CM000685.2:g.13758427C>T	GRCh38
NC_000023.10:g.13776546C>T , CM000685.1:g.13776546C>T	GRCh37
NC_000023.9:g.13686467C>T	NCBI36
NG_008872.1:g.28715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1326C>T	ENSP00000369941.2:n.*1326C>T
ENST00000398395.8:c.*1115+637C>T	ENSP00000381432.5:n.*1115+637C>T
ENST00000464463.6:n.1796C>T
ENST00000490265.6:n.2162C>T
ENST00000682237.1:c.*1193C>T	ENSP00000507121.1:n.*1193C>T
ENST00000682562.1:c.*3035C>T	ENSP00000507874.1:n.*3035C>T
ENST00000682953.1:c.*2360C>T	ENSP00000507878.1:n.*2360C>T
ENST00000683055.1:c.*948C>T	ENSP00000508191.1:n.*948C>T
ENST00000683284.1:c.*1864C>T	ENSP00000507837.1:n.*1864C>T
ENST00000683427.1:c.*311+637C>T	ENSP00000507290.1:n.*311+637C>T
ENST00000683454.1:n.1647C>T
ENST00000683637.1:n.2742C>T
ENST00000683655.1:c.*1847C>T	ENSP00000506770.1:n.*1847C>T
ENST00000683713.1:c.*1864C>T	ENSP00000507797.1:n.*1864C>T
ENST00000684577.1:c.*1330C>T	ENSP00000507871.1:n.*1330C>T
ENST00000340096.11:c.1633C>T MANE Select	ENSP00000344314.6:p.Gln545Ter
ENST00000340096.10:c.1633C>T	ENSP00000344314.6:p.Gln545Ter
ENST00000380550.6:c.1513C>T	ENSP00000369923.3:p.Gln505Ter
ENST00000380567.5:c.1213C>T	ENSP00000369941.1:p.Gln405Ter
ENST00000398395.7:c.1011+637C>T	ENSP00000381432.4:n.1011+637C>T
ENST00000490265.5:n.2608C>T
NM_003611.2:c.1633C>T	NP_003602.1:p.Gln545Ter
XM_005274599.2:c.1654C>T	XP_005274656.1:p.Gln552Ter
XM_005274602.2:c.1654C>T	XP_005274659.1:p.Gln552Ter
XM_005274603.2:c.1534C>T	XP_005274660.1:p.Gln512Ter
XM_005274604.2:c.1513C>T	XP_005274661.1:p.Gln505Ter
XM_005274606.2:c.1489C>T	XP_005274663.1:p.Gln497Ter
XM_005274607.3:c.1213C>T	XP_005274664.1:p.Gln405Ter
XM_011545591.1:c.1654C>T	XP_011543893.1:p.Gln552Ter
XM_011545592.1:c.1441C>T	XP_011543894.1:p.Gln481Ter
XM_011545593.1:c.1654C>T	XP_011543895.1:p.Gln552Ter
XM_011545594.1:c.1312C>T	XP_011543896.1:p.Gln438Ter
XM_011545595.1:c.1312C>T	XP_011543897.1:p.Gln438Ter
XM_011545596.1:c.1654C>T	XP_011543898.1:p.Gln552Ter
XM_011545597.1:c.1213C>T	XP_011543899.1:p.Gln405Ter
XM_011545598.1:c.358C>T	XP_011543900.1:p.Gln120Ter
XR_247288.2:n.1993C>T
NM_001330209.1:c.1513C>T	NP_001317138.1:p.Gln505Ter
NM_001330210.1:c.1213C>T	NP_001317139.1:p.Gln405Ter
XM_005274606.4:c.1489C>T	XP_005274663.1:p.Gln497Ter
XM_011545592.3:c.1441C>T	XP_011543894.1:p.Gln481Ter
XM_011545594.3:c.1312C>T	XP_011543896.1:p.Gln438Ter
XM_011545597.2:c.1213C>T	XP_011543899.1:p.Gln405Ter
XM_017029909.1:c.1213C>T	XP_016885398.1:p.Gln405Ter
XM_017029911.1:c.691C>T	XP_016885400.1:p.Gln231Ter
XM_024452468.1:c.358C>T	XP_024308236.1:p.Gln120Ter
XM_024452469.1:c.358C>T	XP_024308237.1:p.Gln120Ter
XM_024452470.1:c.358C>T	XP_024308238.1:p.Gln120Ter
XM_024452471.1:c.358C>T	XP_024308239.1:p.Gln120Ter
NM_003611.3:c.1633C>T MANE Select	NP_003602.1:p.Gln545Ter
NM_001330209.2:c.1513C>T	NP_001317138.1:p.Gln505Ter
NM_001330210.2:c.1213C>T	NP_001317139.1:p.Gln405Ter