Canonical Allele Identifier: CA412343482

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1029728
• ClinVar RCV Id: RCV001331084
• dbSNP Id: rs2047796952
• MyVariant Identifiers: chrX:g.13776553A>G (hg19) ; chrX:g.13758434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758434A>G , CM000685.2:g.13758434A>G	GRCh38
NC_000023.10:g.13776553A>G , CM000685.1:g.13776553A>G	GRCh37
NC_000023.9:g.13686474A>G	NCBI36
NG_008872.1:g.28722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1333A>G	ENSP00000369941.2:n.*1333A>G
ENST00000398395.8:c.*1115+644A>G	ENSP00000381432.5:n.*1115+644A>G
ENST00000464463.6:n.1803A>G
ENST00000490265.6:n.2169A>G
ENST00000682237.1:c.*1200A>G	ENSP00000507121.1:n.*1200A>G
ENST00000682562.1:c.*3042A>G	ENSP00000507874.1:n.*3042A>G
ENST00000682953.1:c.*2367A>G	ENSP00000507878.1:n.*2367A>G
ENST00000683055.1:c.*955A>G	ENSP00000508191.1:n.*955A>G
ENST00000683284.1:c.*1871A>G	ENSP00000507837.1:n.*1871A>G
ENST00000683427.1:c.*311+644A>G	ENSP00000507290.1:n.*311+644A>G
ENST00000683454.1:n.1654A>G
ENST00000683637.1:n.2749A>G
ENST00000683655.1:c.*1854A>G	ENSP00000506770.1:n.*1854A>G
ENST00000683713.1:c.*1871A>G	ENSP00000507797.1:n.*1871A>G
ENST00000684577.1:c.*1337A>G	ENSP00000507871.1:n.*1337A>G
ENST00000340096.11:c.1640A>G MANE Select	ENSP00000344314.6:p.Lys547Arg
ENST00000340096.10:c.1640A>G	ENSP00000344314.6:p.Lys547Arg
ENST00000380550.6:c.1520A>G	ENSP00000369923.3:p.Lys507Arg
ENST00000380567.5:c.1220A>G	ENSP00000369941.1:p.Lys407Arg
ENST00000398395.7:c.1011+644A>G	ENSP00000381432.4:n.1011+644A>G
ENST00000490265.5:n.2615A>G
NM_003611.2:c.1640A>G	NP_003602.1:p.Lys547Arg
XM_005274599.2:c.1661A>G	XP_005274656.1:p.Lys554Arg
XM_005274602.2:c.1661A>G	XP_005274659.1:p.Lys554Arg
XM_005274603.2:c.1541A>G	XP_005274660.1:p.Lys514Arg
XM_005274604.2:c.1520A>G	XP_005274661.1:p.Lys507Arg
XM_005274606.2:c.1496A>G	XP_005274663.1:p.Lys499Arg
XM_005274607.3:c.1220A>G	XP_005274664.1:p.Lys407Arg
XM_011545591.1:c.1661A>G	XP_011543893.1:p.Lys554Arg
XM_011545592.1:c.1448A>G	XP_011543894.1:p.Lys483Arg
XM_011545593.1:c.1661A>G	XP_011543895.1:p.Lys554Arg
XM_011545594.1:c.1319A>G	XP_011543896.1:p.Lys440Arg
XM_011545595.1:c.1319A>G	XP_011543897.1:p.Lys440Arg
XM_011545596.1:c.1661A>G	XP_011543898.1:p.Lys554Arg
XM_011545597.1:c.1220A>G	XP_011543899.1:p.Lys407Arg
XM_011545598.1:c.365A>G	XP_011543900.1:p.Lys122Arg
XR_247288.2:n.2000A>G
NM_001330209.1:c.1520A>G	NP_001317138.1:p.Lys507Arg
NM_001330210.1:c.1220A>G	NP_001317139.1:p.Lys407Arg
XM_005274606.4:c.1496A>G	XP_005274663.1:p.Lys499Arg
XM_011545592.3:c.1448A>G	XP_011543894.1:p.Lys483Arg
XM_011545594.3:c.1319A>G	XP_011543896.1:p.Lys440Arg
XM_011545597.2:c.1220A>G	XP_011543899.1:p.Lys407Arg
XM_017029909.1:c.1220A>G	XP_016885398.1:p.Lys407Arg
XM_017029911.1:c.698A>G	XP_016885400.1:p.Lys233Arg
XM_024452468.1:c.365A>G	XP_024308236.1:p.Lys122Arg
XM_024452469.1:c.365A>G	XP_024308237.1:p.Lys122Arg
XM_024452470.1:c.365A>G	XP_024308238.1:p.Lys122Arg
XM_024452471.1:c.365A>G	XP_024308239.1:p.Lys122Arg
NM_003611.3:c.1640A>G MANE Select	NP_003602.1:p.Lys547Arg
NM_001330209.2:c.1520A>G	NP_001317138.1:p.Lys507Arg
NM_001330210.2:c.1220A>G	NP_001317139.1:p.Lys407Arg