Canonical Allele Identifier: CA412343079

Gene: OFD1

Linked Data

• ClinVar Variation Id: 532266
• ClinVar RCV Id: RCV000638946 ; RCV002483822
• dbSNP Id: rs1454731121
• gnomAD v2: X-13775835-G-A
• gnomAD v3: X-13757716-G-A
• gnomAD v4: X-13757716-G-A
• COSMIC: COSM1218394
• MyVariant Identifiers: chrX:g.13775835G>A (hg19) ; chrX:g.13757716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13757716G>A , CM000685.2:g.13757716G>A	GRCh38
NC_000023.10:g.13775835G>A , CM000685.1:g.13775835G>A	GRCh37
NC_000023.9:g.13685756G>A	NCBI36
NG_008872.1:g.28004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1161G>A	ENSP00000369941.2:n.*1161G>A
ENST00000398395.8:c.*1041G>A	ENSP00000381432.5:n.*1041G>A
ENST00000464463.6:n.1631G>A
ENST00000490265.6:n.1997G>A
ENST00000682237.1:c.*1028G>A	ENSP00000507121.1:n.*1028G>A
ENST00000682562.1:c.*2870G>A	ENSP00000507874.1:n.*2870G>A
ENST00000682953.1:c.*2195G>A	ENSP00000507878.1:n.*2195G>A
ENST00000683055.1:c.*237G>A	ENSP00000508191.1:n.*237G>A
ENST00000683284.1:c.*1699G>A	ENSP00000507837.1:n.*1699G>A
ENST00000683427.1:c.*237G>A	ENSP00000507290.1:n.*237G>A
ENST00000683454.1:n.1482G>A
ENST00000683637.1:n.2577G>A
ENST00000683655.1:c.*1682G>A	ENSP00000506770.1:n.*1682G>A
ENST00000683713.1:c.*1699G>A	ENSP00000507797.1:n.*1699G>A
ENST00000684577.1:c.*1165G>A	ENSP00000507871.1:n.*1165G>A
ENST00000340096.11:c.1468G>A MANE Select	ENSP00000344314.6:p.Glu490Lys
ENST00000340096.10:c.1468G>A	ENSP00000344314.6:p.Glu490Lys
ENST00000380550.6:c.1348G>A	ENSP00000369923.3:p.Glu450Lys
ENST00000380567.5:c.1048G>A	ENSP00000369941.1:p.Glu350Lys
ENST00000398395.7:c.937G>A	ENSP00000381432.4:p.Glu313Lys
ENST00000490265.5:n.2443G>A
NM_003611.2:c.1468G>A	NP_003602.1:p.Glu490Lys
XM_005274599.2:c.1489G>A	XP_005274656.1:p.Glu497Lys
XM_005274602.2:c.1489G>A	XP_005274659.1:p.Glu497Lys
XM_005274603.2:c.1369G>A	XP_005274660.1:p.Glu457Lys
XM_005274604.2:c.1348G>A	XP_005274661.1:p.Glu450Lys
XM_005274606.2:c.1324G>A	XP_005274663.1:p.Glu442Lys
XM_005274607.3:c.1048G>A	XP_005274664.1:p.Glu350Lys
XM_011545591.1:c.1489G>A	XP_011543893.1:p.Glu497Lys
XM_011545592.1:c.1276G>A	XP_011543894.1:p.Glu426Lys
XM_011545593.1:c.1489G>A	XP_011543895.1:p.Glu497Lys
XM_011545594.1:c.1147G>A	XP_011543896.1:p.Glu383Lys
XM_011545595.1:c.1147G>A	XP_011543897.1:p.Glu383Lys
XM_011545596.1:c.1489G>A	XP_011543898.1:p.Glu497Lys
XM_011545597.1:c.1048G>A	XP_011543899.1:p.Glu350Lys
XM_011545598.1:c.193G>A	XP_011543900.1:p.Glu65Lys
XR_247288.2:n.1828G>A
NM_001330209.1:c.1348G>A	NP_001317138.1:p.Glu450Lys
NM_001330210.1:c.1048G>A	NP_001317139.1:p.Glu350Lys
XM_005274606.4:c.1324G>A	XP_005274663.1:p.Glu442Lys
XM_011545592.3:c.1276G>A	XP_011543894.1:p.Glu426Lys
XM_011545594.3:c.1147G>A	XP_011543896.1:p.Glu383Lys
XM_011545597.2:c.1048G>A	XP_011543899.1:p.Glu350Lys
XM_017029909.1:c.1048G>A	XP_016885398.1:p.Glu350Lys
XM_017029911.1:c.526G>A	XP_016885400.1:p.Glu176Lys
XM_024452468.1:c.193G>A	XP_024308236.1:p.Glu65Lys
XM_024452469.1:c.193G>A	XP_024308237.1:p.Glu65Lys
XM_024452470.1:c.193G>A	XP_024308238.1:p.Glu65Lys
XM_024452471.1:c.193G>A	XP_024308239.1:p.Glu65Lys
NM_003611.3:c.1468G>A MANE Select	NP_003602.1:p.Glu490Lys
NM_001330209.2:c.1348G>A	NP_001317138.1:p.Glu450Lys
NM_001330210.2:c.1048G>A	NP_001317139.1:p.Glu350Lys