Canonical Allele Identifier: CA412343406

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776517T>C (hg19) ; chrX:g.13758398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758398T>C , CM000685.2:g.13758398T>C	GRCh38
NC_000023.10:g.13776517T>C , CM000685.1:g.13776517T>C	GRCh37
NC_000023.9:g.13686438T>C	NCBI36
NG_008872.1:g.28686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1297T>C	ENSP00000369941.2:n.*1297T>C
ENST00000398395.8:c.*1115+608T>C	ENSP00000381432.5:n.*1115+608T>C
ENST00000464463.6:n.1767T>C
ENST00000490265.6:n.2133T>C
ENST00000682237.1:c.*1164T>C	ENSP00000507121.1:n.*1164T>C
ENST00000682562.1:c.*3006T>C	ENSP00000507874.1:n.*3006T>C
ENST00000682953.1:c.*2331T>C	ENSP00000507878.1:n.*2331T>C
ENST00000683055.1:c.*919T>C	ENSP00000508191.1:n.*919T>C
ENST00000683284.1:c.*1835T>C	ENSP00000507837.1:n.*1835T>C
ENST00000683427.1:c.*311+608T>C	ENSP00000507290.1:n.*311+608T>C
ENST00000683454.1:n.1618T>C
ENST00000683637.1:n.2713T>C
ENST00000683655.1:c.*1818T>C	ENSP00000506770.1:n.*1818T>C
ENST00000683713.1:c.*1835T>C	ENSP00000507797.1:n.*1835T>C
ENST00000684577.1:c.*1301T>C	ENSP00000507871.1:n.*1301T>C
ENST00000340096.11:c.1604T>C MANE Select	ENSP00000344314.6:p.Leu535Ser
ENST00000340096.10:c.1604T>C	ENSP00000344314.6:p.Leu535Ser
ENST00000380550.6:c.1484T>C	ENSP00000369923.3:p.Leu495Ser
ENST00000380567.5:c.1184T>C	ENSP00000369941.1:p.Leu395Ser
ENST00000398395.7:c.1011+608T>C	ENSP00000381432.4:n.1011+608T>C
ENST00000490265.5:n.2579T>C
NM_003611.2:c.1604T>C	NP_003602.1:p.Leu535Ser
XM_005274599.2:c.1625T>C	XP_005274656.1:p.Leu542Ser
XM_005274602.2:c.1625T>C	XP_005274659.1:p.Leu542Ser
XM_005274603.2:c.1505T>C	XP_005274660.1:p.Leu502Ser
XM_005274604.2:c.1484T>C	XP_005274661.1:p.Leu495Ser
XM_005274606.2:c.1460T>C	XP_005274663.1:p.Leu487Ser
XM_005274607.3:c.1184T>C	XP_005274664.1:p.Leu395Ser
XM_011545591.1:c.1625T>C	XP_011543893.1:p.Leu542Ser
XM_011545592.1:c.1412T>C	XP_011543894.1:p.Leu471Ser
XM_011545593.1:c.1625T>C	XP_011543895.1:p.Leu542Ser
XM_011545594.1:c.1283T>C	XP_011543896.1:p.Leu428Ser
XM_011545595.1:c.1283T>C	XP_011543897.1:p.Leu428Ser
XM_011545596.1:c.1625T>C	XP_011543898.1:p.Leu542Ser
XM_011545597.1:c.1184T>C	XP_011543899.1:p.Leu395Ser
XM_011545598.1:c.329T>C	XP_011543900.1:p.Leu110Ser
XR_247288.2:n.1964T>C
NM_001330209.1:c.1484T>C	NP_001317138.1:p.Leu495Ser
NM_001330210.1:c.1184T>C	NP_001317139.1:p.Leu395Ser
XM_005274606.4:c.1460T>C	XP_005274663.1:p.Leu487Ser
XM_011545592.3:c.1412T>C	XP_011543894.1:p.Leu471Ser
XM_011545594.3:c.1283T>C	XP_011543896.1:p.Leu428Ser
XM_011545597.2:c.1184T>C	XP_011543899.1:p.Leu395Ser
XM_017029909.1:c.1184T>C	XP_016885398.1:p.Leu395Ser
XM_017029911.1:c.662T>C	XP_016885400.1:p.Leu221Ser
XM_024452468.1:c.329T>C	XP_024308236.1:p.Leu110Ser
XM_024452469.1:c.329T>C	XP_024308237.1:p.Leu110Ser
XM_024452470.1:c.329T>C	XP_024308238.1:p.Leu110Ser
XM_024452471.1:c.329T>C	XP_024308239.1:p.Leu110Ser
NM_003611.3:c.1604T>C MANE Select	NP_003602.1:p.Leu535Ser
NM_001330209.2:c.1484T>C	NP_001317138.1:p.Leu495Ser
NM_001330210.2:c.1184T>C	NP_001317139.1:p.Leu395Ser