Canonical Allele Identifier: CA412338029

Gene: OFD1

Linked Data

• ClinVar Variation Id: 532264
• ClinVar RCV Id: RCV000638944
• dbSNP Id: rs1555902866
• MyVariant Identifiers: chrX:g.13764992G>T (hg19) ; chrX:g.13746873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13746873G>T , CM000685.2:g.13746873G>T	GRCh38
NC_000023.10:g.13764992G>T , CM000685.1:g.13764992G>T	GRCh37
NC_000023.9:g.13674913G>T	NCBI36
NG_008872.1:g.17161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*441G>T	ENSP00000369941.2:n.*441G>T
ENST00000398395.8:c.*441G>T	ENSP00000381432.5:n.*441G>T
ENST00000464463.6:n.1031G>T
ENST00000490265.6:n.610G>T
ENST00000682237.1:c.748G>T	ENSP00000507121.1:p.Glu250Ter
ENST00000682562.1:c.*441G>T	ENSP00000507874.1:n.*441G>T
ENST00000682953.1:c.*811G>T	ENSP00000507878.1:n.*811G>T
ENST00000683055.1:c.643G>T	ENSP00000508191.1:p.Glu215Ter
ENST00000683065.1:n.157G>T
ENST00000683284.1:c.*315G>T	ENSP00000507837.1:n.*315G>T
ENST00000683427.1:c.748G>T	ENSP00000507290.1:p.Glu250Ter
ENST00000683454.1:n.762G>T
ENST00000683637.1:n.1193G>T
ENST00000683655.1:c.*298G>T	ENSP00000506770.1:n.*298G>T
ENST00000683713.1:c.*315G>T	ENSP00000507797.1:n.*315G>T
ENST00000684577.1:c.*441G>T	ENSP00000507871.1:n.*441G>T
ENST00000340096.11:c.748G>T MANE Select	ENSP00000344314.6:p.Glu250Ter
ENST00000340096.10:c.748G>T	ENSP00000344314.6:p.Glu250Ter
ENST00000380550.6:c.748G>T	ENSP00000369923.3:p.Glu250Ter
ENST00000380567.5:c.328G>T	ENSP00000369941.1:p.Glu110Ter
ENST00000398395.7:c.337G>T	ENSP00000381432.4:p.Glu113Ter
ENST00000490265.5:n.1059G>T
NM_003611.2:c.748G>T	NP_003602.1:p.Glu250Ter
XM_005274599.2:c.769G>T	XP_005274656.1:p.Glu257Ter
XM_005274602.2:c.769G>T	XP_005274659.1:p.Glu257Ter
XM_005274603.2:c.769G>T	XP_005274660.1:p.Glu257Ter
XM_005274604.2:c.748G>T	XP_005274661.1:p.Glu250Ter
XM_005274606.2:c.604G>T	XP_005274663.1:p.Glu202Ter
XM_005274607.3:c.328G>T	XP_005274664.1:p.Glu110Ter
XM_011545591.1:c.769G>T	XP_011543893.1:p.Glu257Ter
XM_011545592.1:c.556G>T	XP_011543894.1:p.Glu186Ter
XM_011545593.1:c.769G>T	XP_011543895.1:p.Glu257Ter
XM_011545594.1:c.427G>T	XP_011543896.1:p.Glu143Ter
XM_011545595.1:c.427G>T	XP_011543897.1:p.Glu143Ter
XM_011545596.1:c.769G>T	XP_011543898.1:p.Glu257Ter
XM_011545597.1:c.328G>T	XP_011543899.1:p.Glu110Ter
XR_247288.2:n.1108G>T
NM_001330209.1:c.748G>T	NP_001317138.1:p.Glu250Ter
NM_001330210.1:c.328G>T	NP_001317139.1:p.Glu110Ter
XM_005274606.4:c.604G>T	XP_005274663.1:p.Glu202Ter
XM_011545592.3:c.556G>T	XP_011543894.1:p.Glu186Ter
XM_011545594.3:c.427G>T	XP_011543896.1:p.Glu143Ter
XM_011545597.2:c.328G>T	XP_011543899.1:p.Glu110Ter
XM_017029909.1:c.328G>T	XP_016885398.1:p.Glu110Ter
XM_024452468.1:c.-1192G>T	XP_024308236.1:n.-1192G>T
XM_024452469.1:c.-1192G>T	XP_024308237.1:n.-1192G>T
XM_024452470.1:c.-1192G>T	XP_024308238.1:n.-1192G>T
XM_024452471.1:c.-1192G>T	XP_024308239.1:n.-1192G>T
NM_003611.3:c.748G>T MANE Select	NP_003602.1:p.Glu250Ter
NM_001330209.2:c.748G>T	NP_001317138.1:p.Glu250Ter
NM_001330210.2:c.328G>T	NP_001317139.1:p.Glu110Ter