Canonical Allele Identifier: CA412344877

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13779209G>A (hg19) ; chrX:g.13761090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761090G>A , CM000685.2:g.13761090G>A	GRCh38
NC_000023.10:g.13779209G>A , CM000685.1:g.13779209G>A	GRCh37
NC_000023.9:g.13689130G>A	NCBI36
NG_008872.1:g.31378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1959G>A	ENSP00000369941.2:n.*1959G>A
ENST00000398395.8:c.*1727G>A	ENSP00000381432.5:n.*1727G>A
ENST00000464463.6:n.4095G>A
ENST00000490265.6:n.2795G>A
ENST00000682237.1:c.*1826G>A	ENSP00000507121.1:n.*1826G>A
ENST00000682562.1:c.*3668G>A	ENSP00000507874.1:n.*3668G>A
ENST00000682953.1:c.*2993G>A	ENSP00000507878.1:n.*2993G>A
ENST00000683055.1:c.*3247G>A	ENSP00000508191.1:n.*3247G>A
ENST00000683284.1:c.*2497G>A	ENSP00000507837.1:n.*2497G>A
ENST00000683427.1:c.*923G>A	ENSP00000507290.1:n.*923G>A
ENST00000683454.1:n.2280G>A
ENST00000683637.1:n.3375G>A
ENST00000683655.1:c.*2480G>A	ENSP00000506770.1:n.*2480G>A
ENST00000683713.1:c.*2497G>A	ENSP00000507797.1:n.*2497G>A
ENST00000684577.1:c.*1963G>A	ENSP00000507871.1:n.*1963G>A
ENST00000340096.11:c.2266G>A MANE Select	ENSP00000344314.6:p.Gly756Ser
ENST00000340096.10:c.2266G>A	ENSP00000344314.6:p.Gly756Ser
ENST00000380550.6:c.2146G>A	ENSP00000369923.3:p.Gly716Ser
ENST00000380567.5:c.1846G>A	ENSP00000369941.1:p.Gly616Ser
ENST00000398395.7:c.*606G>A	ENSP00000381432.4:n.*606G>A
ENST00000464463.5:n.87G>A
ENST00000490265.5:n.3241G>A
NM_003611.2:c.2266G>A	NP_003602.1:p.Gly756Ser
XM_005274599.2:c.2287G>A	XP_005274656.1:p.Gly763Ser
XM_005274602.2:c.2287G>A	XP_005274659.1:p.Gly763Ser
XM_005274603.2:c.2167G>A	XP_005274660.1:p.Gly723Ser
XM_005274604.2:c.2146G>A	XP_005274661.1:p.Gly716Ser
XM_005274606.2:c.2122G>A	XP_005274663.1:p.Gly708Ser
XM_005274607.3:c.1846G>A	XP_005274664.1:p.Gly616Ser
XM_011545591.1:c.2287G>A	XP_011543893.1:p.Gly763Ser
XM_011545592.1:c.2074G>A	XP_011543894.1:p.Gly692Ser
XM_011545593.1:c.2287G>A	XP_011543895.1:p.Gly763Ser
XM_011545594.1:c.1945G>A	XP_011543896.1:p.Gly649Ser
XM_011545595.1:c.1945G>A	XP_011543897.1:p.Gly649Ser
XM_011545596.1:c.2287G>A	XP_011543898.1:p.Gly763Ser
XM_011545597.1:c.1846G>A	XP_011543899.1:p.Gly616Ser
XM_011545598.1:c.991G>A	XP_011543900.1:p.Gly331Ser
XR_247288.2:n.2626G>A
NM_001330209.1:c.2146G>A	NP_001317138.1:p.Gly716Ser
NM_001330210.1:c.1846G>A	NP_001317139.1:p.Gly616Ser
XM_005274606.4:c.2122G>A	XP_005274663.1:p.Gly708Ser
XM_011545592.3:c.2074G>A	XP_011543894.1:p.Gly692Ser
XM_011545594.3:c.1945G>A	XP_011543896.1:p.Gly649Ser
XM_011545597.2:c.1846G>A	XP_011543899.1:p.Gly616Ser
XM_017029909.1:c.1846G>A	XP_016885398.1:p.Gly616Ser
XM_017029911.1:c.1324G>A	XP_016885400.1:p.Gly442Ser
XM_024452468.1:c.991G>A	XP_024308236.1:p.Gly331Ser
XM_024452469.1:c.991G>A	XP_024308237.1:p.Gly331Ser
XM_024452470.1:c.991G>A	XP_024308238.1:p.Gly331Ser
XM_024452471.1:c.991G>A	XP_024308239.1:p.Gly331Ser
NM_003611.3:c.2266G>A MANE Select	NP_003602.1:p.Gly756Ser
NM_001330209.2:c.2146G>A	NP_001317138.1:p.Gly716Ser
NM_001330210.2:c.1846G>A	NP_001317139.1:p.Gly616Ser