Canonical Allele Identifier: CA341101

Gene: OFD1

Linked Data

• ClinVar Variation Id: 11540
• ClinVar RCV Id: RCV000012296
• dbSNP Id: rs312262833
• MyVariant Identifiers: chrX:g.13762524T>G (hg19) ; chrX:g.13744405T>G (hg38)
• PubMed: PMID:11950863 ; PMID:20301367

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13744405T>G , CM000685.2:g.13744405T>G	GRCh38
NC_000023.10:g.13762524T>G , CM000685.1:g.13762524T>G	GRCh37
NC_000023.9:g.13672445T>G	NCBI36
NG_008872.1:g.14693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*106-10T>G	ENSP00000369941.2:n.*106-10T>G
ENST00000398395.8:c.*106-10T>G	ENSP00000381432.5:n.*106-10T>G
ENST00000464463.6:n.696-10T>G
ENST00000490265.6:n.275-10T>G
ENST00000682237.1:c.413-10T>G	ENSP00000507121.1:n.413-10T>G
ENST00000682562.1:c.*106-10T>G	ENSP00000507874.1:n.*106-10T>G
ENST00000682953.1:c.*476-10T>G	ENSP00000507878.1:n.*476-10T>G
ENST00000683055.1:c.413-1914T>G	ENSP00000508191.1:n.413-1914T>G
ENST00000683284.1:c.235-10T>G	ENSP00000507837.1:n.235-10T>G
ENST00000683427.1:c.413-10T>G	ENSP00000507290.1:n.413-10T>G
ENST00000683454.1:n.427-10T>G
ENST00000683637.1:n.848T>G
ENST00000683655.1:c.413-10T>G	ENSP00000506770.1:n.413-10T>G
ENST00000683713.1:c.313-10T>G	ENSP00000507797.1:n.313-10T>G
ENST00000684577.1:c.*106-10T>G	ENSP00000507871.1:n.*106-10T>G
ENST00000340096.11:c.413-10T>G MANE Select	ENSP00000344314.6:n.413-10T>G
ENST00000340096.10:c.413-10T>G	ENSP00000344314.6:n.413-10T>G
ENST00000380550.6:c.413-10T>G	ENSP00000369923.3:n.413-10T>G
ENST00000380567.5:c.-8-10T>G	ENSP00000369941.1:n.-8-10T>G
ENST00000398395.7:c.4-10T>G	ENSP00000381432.4:n.4-10T>G
ENST00000490265.5:n.724-10T>G
NM_003611.2:c.413-10T>G	NP_003602.1:n.413-10T>G
XM_005274599.2:c.434-10T>G	XP_005274656.1:n.434-10T>G
XM_005274602.2:c.434-10T>G	XP_005274659.1:n.434-10T>G
XM_005274603.2:c.434-10T>G	XP_005274660.1:n.434-10T>G
XM_005274604.2:c.413-10T>G	XP_005274661.1:n.413-10T>G
XM_005274606.2:c.269-10T>G	XP_005274663.1:n.269-10T>G
XM_005274607.3:c.-8-10T>G	XP_005274664.1:n.-8-10T>G
XM_011545591.1:c.434-10T>G	XP_011543893.1:n.434-10T>G
XM_011545592.1:c.221-10T>G	XP_011543894.1:n.221-10T>G
XM_011545593.1:c.434-10T>G	XP_011543895.1:n.434-10T>G
XM_011545594.1:c.92-10T>G	XP_011543896.1:n.92-10T>G
XM_011545595.1:c.92-10T>G	XP_011543897.1:n.92-10T>G
XM_011545596.1:c.434-10T>G	XP_011543898.1:n.434-10T>G
XM_011545597.1:c.-8-10T>G	XP_011543899.1:n.-8-10T>G
XR_247288.2:n.773-10T>G
NM_001330209.1:c.413-10T>G	NP_001317138.1:n.413-10T>G
NM_001330210.1:c.-8-10T>G	NP_001317139.1:n.-8-10T>G
XM_005274606.4:c.269-10T>G	XP_005274663.1:n.269-10T>G
XM_011545592.3:c.221-10T>G	XP_011543894.1:n.221-10T>G
XM_011545594.3:c.92-10T>G	XP_011543896.1:n.92-10T>G
XM_011545597.2:c.-8-10T>G	XP_011543899.1:n.-8-10T>G
XM_017029909.1:c.-8-10T>G	XP_016885398.1:n.-8-10T>G
XM_024452468.1:c.-1527-10T>G	XP_024308236.1:n.-1527-10T>G
XM_024452469.1:c.-1527-10T>G	XP_024308237.1:n.-1527-10T>G
XM_024452470.1:c.-1527-10T>G	XP_024308238.1:n.-1527-10T>G
XM_024452471.1:c.-1527-10T>G	XP_024308239.1:n.-1527-10T>G
NM_003611.3:c.413-10T>G MANE Select	NP_003602.1:n.413-10T>G
NM_001330209.2:c.413-10T>G	NP_001317138.1:n.413-10T>G
NM_001330210.2:c.-8-10T>G	NP_001317139.1:n.-8-10T>G