Canonical Allele Identifier: CA279372

Gene: OFD1

Linked Data

• ClinVar Variation Id: 217686
• ClinVar RCV Id: RCV000201562 ; RCV000484195 ; RCV001383220 ; RCV003888641
• dbSNP Id: rs863225212
• MyVariant Identifiers: chrX:g.13785314C>T (hg19) ; chrX:g.13767195C>T (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767195C>T , CM000685.2:g.13767195C>T	GRCh38
NC_000023.10:g.13785314C>T , CM000685.1:g.13785314C>T	GRCh37
NC_000023.9:g.13695235C>T	NCBI36
NG_008872.1:g.37483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2361C>T	ENSP00000369941.2:n.*2361C>T
ENST00000398395.8:c.*2129C>T	ENSP00000381432.5:n.*2129C>T
ENST00000464463.6:n.4497C>T
ENST00000490265.6:n.3197C>T
ENST00000682237.1:c.*2228C>T	ENSP00000507121.1:n.*2228C>T
ENST00000682562.1:c.*3959C>T	ENSP00000507874.1:n.*3959C>T
ENST00000682953.1:c.*3284C>T	ENSP00000507878.1:n.*3284C>T
ENST00000683055.1:c.*3538C>T	ENSP00000508191.1:n.*3538C>T
ENST00000683284.1:c.*2899C>T	ENSP00000507837.1:n.*2899C>T
ENST00000683427.1:c.*1325C>T	ENSP00000507290.1:n.*1325C>T
ENST00000683454.1:n.2682C>T
ENST00000683637.1:n.3777C>T
ENST00000683655.1:c.*2882C>T	ENSP00000506770.1:n.*2882C>T
ENST00000683713.1:c.*2899C>T	ENSP00000507797.1:n.*2899C>T
ENST00000684577.1:c.*2254C>T	ENSP00000507871.1:n.*2254C>T
ENST00000340096.11:c.2668C>T MANE Select	ENSP00000344314.6:p.Arg890Ter
ENST00000340096.10:c.2668C>T	ENSP00000344314.6:p.Arg890Ter
ENST00000380550.6:c.2548C>T	ENSP00000369923.3:p.Arg850Ter
ENST00000380567.5:c.2248C>T	ENSP00000369941.1:p.Arg750Ter
ENST00000398395.7:c.*1008C>T	ENSP00000381432.4:n.*1008C>T
ENST00000464463.5:n.378C>T
ENST00000490265.5:n.3643C>T
NM_003611.2:c.2668C>T	NP_003602.1:p.Arg890Ter
XM_005274599.2:c.2689C>T	XP_005274656.1:p.Arg897Ter
XM_005274602.2:c.2578C>T	XP_005274659.1:p.Arg860Ter
XM_005274603.2:c.2569C>T	XP_005274660.1:p.Arg857Ter
XM_005274604.2:c.2548C>T	XP_005274661.1:p.Arg850Ter
XM_005274606.2:c.2524C>T	XP_005274663.1:p.Arg842Ter
XM_005274607.3:c.2248C>T	XP_005274664.1:p.Arg750Ter
XM_011545591.1:c.2689C>T	XP_011543893.1:p.Arg897Ter
XM_011545592.1:c.2476C>T	XP_011543894.1:p.Arg826Ter
XM_011545593.1:c.2689C>T	XP_011543895.1:p.Arg897Ter
XM_011545594.1:c.2347C>T	XP_011543896.1:p.Arg783Ter
XM_011545595.1:c.2347C>T	XP_011543897.1:p.Arg783Ter
XM_011545596.1:c.2510-859C>T	XP_011543898.1:n.2510-859C>T
XM_011545597.1:c.2137C>T	XP_011543899.1:p.Arg713Ter
XM_011545598.1:c.1393C>T	XP_011543900.1:p.Arg465Ter
XR_247288.2:n.2960-859C>T
NM_001330209.1:c.2548C>T	NP_001317138.1:p.Arg850Ter
NM_001330210.1:c.2248C>T	NP_001317139.1:p.Arg750Ter
XM_005274606.4:c.2524C>T	XP_005274663.1:p.Arg842Ter
XM_011545592.3:c.2476C>T	XP_011543894.1:p.Arg826Ter
XM_011545594.3:c.2347C>T	XP_011543896.1:p.Arg783Ter
XM_011545597.2:c.2137C>T	XP_011543899.1:p.Arg713Ter
XM_017029909.1:c.2248C>T	XP_016885398.1:p.Arg750Ter
XM_017029911.1:c.1726C>T	XP_016885400.1:p.Arg576Ter
XM_024452468.1:c.1393C>T	XP_024308236.1:p.Arg465Ter
XM_024452469.1:c.1393C>T	XP_024308237.1:p.Arg465Ter
XM_024452470.1:c.1393C>T	XP_024308238.1:p.Arg465Ter
XM_024452471.1:c.1282C>T	XP_024308239.1:p.Arg428Ter
NM_003611.3:c.2668C>T MANE Select	NP_003602.1:p.Arg890Ter
NM_001330209.2:c.2548C>T	NP_001317138.1:p.Arg850Ter
NM_001330210.2:c.2248C>T	NP_001317139.1:p.Arg750Ter