Canonical Allele Identifier: CA412343376

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1038468
• ClinVar RCV Id: RCV001341783 ; RCV002476576
• dbSNP Id: rs2047794483
• MyVariant Identifiers: chrX:g.13776502C>G (hg19) ; chrX:g.13758383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758383C>G , CM000685.2:g.13758383C>G	GRCh38
NC_000023.10:g.13776502C>G , CM000685.1:g.13776502C>G	GRCh37
NC_000023.9:g.13686423C>G	NCBI36
NG_008872.1:g.28671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1282C>G	ENSP00000369941.2:n.*1282C>G
ENST00000398395.8:c.*1115+593C>G	ENSP00000381432.5:n.*1115+593C>G
ENST00000464463.6:n.1752C>G
ENST00000490265.6:n.2118C>G
ENST00000682237.1:c.*1149C>G	ENSP00000507121.1:n.*1149C>G
ENST00000682562.1:c.*2991C>G	ENSP00000507874.1:n.*2991C>G
ENST00000682953.1:c.*2316C>G	ENSP00000507878.1:n.*2316C>G
ENST00000683055.1:c.*904C>G	ENSP00000508191.1:n.*904C>G
ENST00000683284.1:c.*1820C>G	ENSP00000507837.1:n.*1820C>G
ENST00000683427.1:c.*311+593C>G	ENSP00000507290.1:n.*311+593C>G
ENST00000683454.1:n.1603C>G
ENST00000683637.1:n.2698C>G
ENST00000683655.1:c.*1803C>G	ENSP00000506770.1:n.*1803C>G
ENST00000683713.1:c.*1820C>G	ENSP00000507797.1:n.*1820C>G
ENST00000684577.1:c.*1286C>G	ENSP00000507871.1:n.*1286C>G
ENST00000340096.11:c.1589C>G MANE Select	ENSP00000344314.6:p.Ala530Gly
ENST00000340096.10:c.1589C>G	ENSP00000344314.6:p.Ala530Gly
ENST00000380550.6:c.1469C>G	ENSP00000369923.3:p.Ala490Gly
ENST00000380567.5:c.1169C>G	ENSP00000369941.1:p.Ala390Gly
ENST00000398395.7:c.1011+593C>G	ENSP00000381432.4:n.1011+593C>G
ENST00000490265.5:n.2564C>G
NM_003611.2:c.1589C>G	NP_003602.1:p.Ala530Gly
XM_005274599.2:c.1610C>G	XP_005274656.1:p.Ala537Gly
XM_005274602.2:c.1610C>G	XP_005274659.1:p.Ala537Gly
XM_005274603.2:c.1490C>G	XP_005274660.1:p.Ala497Gly
XM_005274604.2:c.1469C>G	XP_005274661.1:p.Ala490Gly
XM_005274606.2:c.1445C>G	XP_005274663.1:p.Ala482Gly
XM_005274607.3:c.1169C>G	XP_005274664.1:p.Ala390Gly
XM_011545591.1:c.1610C>G	XP_011543893.1:p.Ala537Gly
XM_011545592.1:c.1397C>G	XP_011543894.1:p.Ala466Gly
XM_011545593.1:c.1610C>G	XP_011543895.1:p.Ala537Gly
XM_011545594.1:c.1268C>G	XP_011543896.1:p.Ala423Gly
XM_011545595.1:c.1268C>G	XP_011543897.1:p.Ala423Gly
XM_011545596.1:c.1610C>G	XP_011543898.1:p.Ala537Gly
XM_011545597.1:c.1169C>G	XP_011543899.1:p.Ala390Gly
XM_011545598.1:c.314C>G	XP_011543900.1:p.Ala105Gly
XR_247288.2:n.1949C>G
NM_001330209.1:c.1469C>G	NP_001317138.1:p.Ala490Gly
NM_001330210.1:c.1169C>G	NP_001317139.1:p.Ala390Gly
XM_005274606.4:c.1445C>G	XP_005274663.1:p.Ala482Gly
XM_011545592.3:c.1397C>G	XP_011543894.1:p.Ala466Gly
XM_011545594.3:c.1268C>G	XP_011543896.1:p.Ala423Gly
XM_011545597.2:c.1169C>G	XP_011543899.1:p.Ala390Gly
XM_017029909.1:c.1169C>G	XP_016885398.1:p.Ala390Gly
XM_017029911.1:c.647C>G	XP_016885400.1:p.Ala216Gly
XM_024452468.1:c.314C>G	XP_024308236.1:p.Ala105Gly
XM_024452469.1:c.314C>G	XP_024308237.1:p.Ala105Gly
XM_024452470.1:c.314C>G	XP_024308238.1:p.Ala105Gly
XM_024452471.1:c.314C>G	XP_024308239.1:p.Ala105Gly
NM_003611.3:c.1589C>G MANE Select	NP_003602.1:p.Ala530Gly
NM_001330209.2:c.1469C>G	NP_001317138.1:p.Ala490Gly
NM_001330210.2:c.1169C>G	NP_001317139.1:p.Ala390Gly