Canonical Allele Identifier: CA412331928

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1374119
• ClinVar RCV Id: RCV001877665
• dbSNP Id: rs2146904853
• MyVariant Identifiers: chrX:g.13753463A>G (hg19) ; chrX:g.13735344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13735344A>G , CM000685.2:g.13735344A>G	GRCh38
NC_000023.10:g.13753463A>G , CM000685.1:g.13753463A>G	GRCh37
NC_000023.9:g.13663384A>G	NCBI36
NG_008872.1:g.5632A>G
NG_011555.1:g.4280T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.109A>G	ENSP00000369941.2:p.Lys37Glu
ENST00000398395.8:c.109A>G	ENSP00000381432.5:p.Lys37Glu
ENST00000464463.6:n.392A>G
ENST00000485052.6:n.602A>G
ENST00000490265.6:n.81A>G
ENST00000682237.1:c.109A>G	ENSP00000507121.1:p.Lys37Glu
ENST00000682562.1:c.109A>G	ENSP00000507874.1:p.Lys37Glu
ENST00000682953.1:c.109A>G	ENSP00000507878.1:p.Lys37Glu
ENST00000683055.1:c.109A>G	ENSP00000508191.1:p.Lys37Glu
ENST00000683284.1:c.109A>G	ENSP00000507837.1:p.Lys37Glu
ENST00000683427.1:c.109A>G	ENSP00000507290.1:p.Lys37Glu
ENST00000683655.1:c.109A>G	ENSP00000506770.1:p.Lys37Glu
ENST00000683713.1:c.109A>G	ENSP00000507797.1:p.Lys37Glu
ENST00000684577.1:c.109A>G	ENSP00000507871.1:p.Lys37Glu
ENST00000340096.11:c.109A>G MANE Select	ENSP00000344314.6:p.Lys37Glu
ENST00000340096.10:c.109A>G	ENSP00000344314.6:p.Lys37Glu
ENST00000380550.6:c.109A>G	ENSP00000369923.3:p.Lys37Glu
ENST00000380567.5:c.-437A>G	ENSP00000369941.1:n.-437A>G
ENST00000398395.7:c.-426A>G	ENSP00000381432.4:n.-426A>G
ENST00000485052.5:n.424A>G
ENST00000490265.5:n.420A>G
NM_003611.2:c.109A>G	NP_003602.1:p.Lys37Glu
XM_005274599.2:c.130A>G	XP_005274656.1:p.Lys44Glu
XM_005274602.2:c.130A>G	XP_005274659.1:p.Lys44Glu
XM_005274603.2:c.130A>G	XP_005274660.1:p.Lys44Glu
XM_005274604.2:c.109A>G	XP_005274661.1:p.Lys37Glu
XM_005274606.2:c.-225A>G	XP_005274663.1:n.-225A>G
XM_011545591.1:c.130A>G	XP_011543893.1:p.Lys44Glu
XM_011545592.1:c.-95A>G	XP_011543894.1:n.-95A>G
XM_011545593.1:c.130A>G	XP_011543895.1:p.Lys44Glu
XM_011545594.1:c.-35A>G	XP_011543896.1:n.-35A>G
XM_011545595.1:c.-33+124A>G	XP_011543897.1:n.-33+124A>G
XM_011545596.1:c.130A>G	XP_011543898.1:p.Lys44Glu
XM_011545597.1:c.-437A>G	XP_011543899.1:n.-437A>G
XR_247288.2:n.469A>G
NM_001330209.1:c.109A>G	NP_001317138.1:p.Lys37Glu
NM_001330210.1:c.-437A>G	NP_001317139.1:n.-437A>G
XM_005274606.4:c.-225A>G	XP_005274663.1:n.-225A>G
XM_011545592.3:c.-95A>G	XP_011543894.1:n.-95A>G
XM_011545594.3:c.-35A>G	XP_011543896.1:n.-35A>G
XM_011545597.2:c.-437A>G	XP_011543899.1:n.-437A>G
XM_017029909.1:c.-259A>G	XP_016885398.1:n.-259A>G
XM_024452468.1:c.-1831A>G	XP_024308236.1:n.-1831A>G
XM_024452469.1:c.-2020A>G	XP_024308237.1:n.-2020A>G
XM_024452470.1:c.-1653A>G	XP_024308238.1:n.-1653A>G
XM_024452471.1:c.-1831A>G	XP_024308239.1:n.-1831A>G
NM_003611.3:c.109A>G MANE Select	NP_003602.1:p.Lys37Glu
NM_001330209.2:c.109A>G	NP_001317138.1:p.Lys37Glu
NM_001330210.2:c.-437A>G	NP_001317139.1:n.-437A>G