Canonical Allele Identifier: CA213088

Gene: OFD1

Linked Data

• ClinVar Variation Id: 101499
• ClinVar RCV Id: RCV000087736
• dbSNP Id: rs730880283
• MyVariant Identifiers: chrX:g.13768358A>G (hg19) ; chrX:g.13750239A>G (hg38)
• PubMed: PMID:10892847 ; PMID:22619378

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13750239A>G , CM000685.2:g.13750239A>G	GRCh38
NC_000023.10:g.13768358A>G , CM000685.1:g.13768358A>G	GRCh37
NC_000023.9:g.13678279A>G	NCBI36
NG_008872.1:g.20527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*628+706A>G	ENSP00000369941.2:n.*628+706A>G
ENST00000398395.8:c.*628+706A>G	ENSP00000381432.5:n.*628+706A>G
ENST00000464463.6:n.1218+706A>G
ENST00000490265.6:n.800+706A>G
ENST00000682237.1:c.935+706A>G	ENSP00000507121.1:n.935+706A>G
ENST00000682562.1:c.*628+706A>G	ENSP00000507874.1:n.*628+706A>G
ENST00000682953.1:c.*998+706A>G	ENSP00000507878.1:n.*998+706A>G
ENST00000683055.1:c.830+706A>G	ENSP00000508191.1:n.830+706A>G
ENST00000683065.1:n.344+706A>G
ENST00000683284.1:c.*502+706A>G	ENSP00000507837.1:n.*502+706A>G
ENST00000683427.1:c.935+706A>G	ENSP00000507290.1:n.935+706A>G
ENST00000683454.1:n.949+706A>G
ENST00000683637.1:n.1380+706A>G
ENST00000683655.1:c.*485+706A>G	ENSP00000506770.1:n.*485+706A>G
ENST00000683713.1:c.*502+706A>G	ENSP00000507797.1:n.*502+706A>G
ENST00000684577.1:c.*628+706A>G	ENSP00000507871.1:n.*628+706A>G
ENST00000340096.11:c.935+706A>G MANE Select	ENSP00000344314.6:n.935+706A>G
ENST00000340096.10:c.935+706A>G	ENSP00000344314.6:n.935+706A>G
ENST00000380550.6:c.935+706A>G	ENSP00000369923.3:n.935+706A>G
ENST00000380567.5:c.515+706A>G	ENSP00000369941.1:n.515+706A>G
ENST00000398395.7:c.524+706A>G	ENSP00000381432.4:n.524+706A>G
ENST00000490265.5:n.1246+706A>G
NM_003611.2:c.935+706A>G	NP_003602.1:n.935+706A>G
XM_005274599.2:c.956+706A>G	XP_005274656.1:n.956+706A>G
XM_005274602.2:c.956+706A>G	XP_005274659.1:n.956+706A>G
XM_005274603.2:c.956+706A>G	XP_005274660.1:n.956+706A>G
XM_005274604.2:c.935+706A>G	XP_005274661.1:n.935+706A>G
XM_005274606.2:c.791+706A>G	XP_005274663.1:n.791+706A>G
XM_005274607.3:c.515+706A>G	XP_005274664.1:n.515+706A>G
XM_011545591.1:c.956+706A>G	XP_011543893.1:n.956+706A>G
XM_011545592.1:c.743+706A>G	XP_011543894.1:n.743+706A>G
XM_011545593.1:c.956+706A>G	XP_011543895.1:n.956+706A>G
XM_011545594.1:c.614+706A>G	XP_011543896.1:n.614+706A>G
XM_011545595.1:c.614+706A>G	XP_011543897.1:n.614+706A>G
XM_011545596.1:c.956+706A>G	XP_011543898.1:n.956+706A>G
XM_011545597.1:c.515+706A>G	XP_011543899.1:n.515+706A>G
XR_247288.2:n.1295+706A>G
NM_001330209.1:c.935+706A>G	NP_001317138.1:n.935+706A>G
NM_001330210.1:c.515+706A>G	NP_001317139.1:n.515+706A>G
XM_005274606.4:c.791+706A>G	XP_005274663.1:n.791+706A>G
XM_011545592.3:c.743+706A>G	XP_011543894.1:n.743+706A>G
XM_011545594.3:c.614+706A>G	XP_011543896.1:n.614+706A>G
XM_011545597.2:c.515+706A>G	XP_011543899.1:n.515+706A>G
XM_017029909.1:c.515+706A>G	XP_016885398.1:n.515+706A>G
XM_024452468.1:c.-1005+706A>G	XP_024308236.1:n.-1005+706A>G
XM_024452469.1:c.-1005+706A>G	XP_024308237.1:n.-1005+706A>G
XM_024452470.1:c.-1005+706A>G	XP_024308238.1:n.-1005+706A>G
XM_024452471.1:c.-1005+706A>G	XP_024308239.1:n.-1005+706A>G
NM_003611.3:c.935+706A>G MANE Select	NP_003602.1:n.935+706A>G
NM_001330209.2:c.935+706A>G	NP_001317138.1:n.935+706A>G
NM_001330210.2:c.515+706A>G	NP_001317139.1:n.515+706A>G