Canonical Allele Identifier: CA334191

Gene: OFD1

Linked Data

• ClinVar Variation Id: 188156
• ClinVar RCV Id: RCV000168046 ; RCV001818402 ; RCV002498832 ; RCV003436963 ; RCV004020001 ; RCV004539569
• dbSNP Id: rs142352920
• ExAC: X:13774769 A / G
• gnomAD v2: X-13774769-A-G
• gnomAD v3: X-13756650-A-G
• gnomAD v4: X-13756650-A-G
• MyVariant Identifiers: chrX:g.13774769A>G (hg19) ; chrX:g.13756650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13756650A>G , CM000685.2:g.13756650A>G	GRCh38
NC_000023.10:g.13774769A>G , CM000685.1:g.13774769A>G	GRCh37
NC_000023.9:g.13684690A>G	NCBI36
NG_008872.1:g.26938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*987A>G	ENSP00000369941.2:n.*987A>G
ENST00000398395.8:c.*867A>G	ENSP00000381432.5:n.*867A>G
ENST00000464463.6:n.1457A>G
ENST00000490265.6:n.1823A>G
ENST00000682237.1:c.*854A>G	ENSP00000507121.1:n.*854A>G
ENST00000682562.1:c.*2696A>G	ENSP00000507874.1:n.*2696A>G
ENST00000682953.1:c.*2021A>G	ENSP00000507878.1:n.*2021A>G
ENST00000683055.1:c.*63A>G	ENSP00000508191.1:n.*63A>G
ENST00000683284.1:c.*1525A>G	ENSP00000507837.1:n.*1525A>G
ENST00000683427.1:c.*63A>G	ENSP00000507290.1:n.*63A>G
ENST00000683454.1:n.1308A>G
ENST00000683637.1:n.2403A>G
ENST00000683655.1:c.*1508A>G	ENSP00000506770.1:n.*1508A>G
ENST00000683713.1:c.*1525A>G	ENSP00000507797.1:n.*1525A>G
ENST00000684577.1:c.*987A>G	ENSP00000507871.1:n.*987A>G
ENST00000340096.11:c.1294A>G MANE Select	ENSP00000344314.6:p.Lys432Glu
ENST00000340096.10:c.1294A>G	ENSP00000344314.6:p.Lys432Glu
ENST00000380550.6:c.1174A>G	ENSP00000369923.3:p.Lys392Glu
ENST00000380567.5:c.874A>G	ENSP00000369941.1:p.Lys292Glu
ENST00000398395.7:c.763A>G	ENSP00000381432.4:p.Lys255Glu
ENST00000490265.5:n.2269A>G
NM_003611.2:c.1294A>G	NP_003602.1:p.Lys432Glu
XM_005274599.2:c.1315A>G	XP_005274656.1:p.Lys439Glu
XM_005274602.2:c.1315A>G	XP_005274659.1:p.Lys439Glu
XM_005274603.2:c.1195A>G	XP_005274660.1:p.Lys399Glu
XM_005274604.2:c.1174A>G	XP_005274661.1:p.Lys392Glu
XM_005274606.2:c.1150A>G	XP_005274663.1:p.Lys384Glu
XM_005274607.3:c.874A>G	XP_005274664.1:p.Lys292Glu
XM_011545591.1:c.1315A>G	XP_011543893.1:p.Lys439Glu
XM_011545592.1:c.1102A>G	XP_011543894.1:p.Lys368Glu
XM_011545593.1:c.1315A>G	XP_011543895.1:p.Lys439Glu
XM_011545594.1:c.973A>G	XP_011543896.1:p.Lys325Glu
XM_011545595.1:c.973A>G	XP_011543897.1:p.Lys325Glu
XM_011545596.1:c.1315A>G	XP_011543898.1:p.Lys439Glu
XM_011545597.1:c.874A>G	XP_011543899.1:p.Lys292Glu
XM_011545598.1:c.19A>G	XP_011543900.1:p.Lys7Glu
XR_247288.2:n.1654A>G
NM_001330209.1:c.1174A>G	NP_001317138.1:p.Lys392Glu
NM_001330210.1:c.874A>G	NP_001317139.1:p.Lys292Glu
XM_005274606.4:c.1150A>G	XP_005274663.1:p.Lys384Glu
XM_011545592.3:c.1102A>G	XP_011543894.1:p.Lys368Glu
XM_011545594.3:c.973A>G	XP_011543896.1:p.Lys325Glu
XM_011545597.2:c.874A>G	XP_011543899.1:p.Lys292Glu
XM_017029909.1:c.874A>G	XP_016885398.1:p.Lys292Glu
XM_017029911.1:c.352A>G	XP_016885400.1:p.Lys118Glu
XM_024452468.1:c.19A>G	XP_024308236.1:p.Lys7Glu
XM_024452469.1:c.19A>G	XP_024308237.1:p.Lys7Glu
XM_024452470.1:c.19A>G	XP_024308238.1:p.Lys7Glu
XM_024452471.1:c.19A>G	XP_024308239.1:p.Lys7Glu
NM_003611.3:c.1294A>G MANE Select	NP_003602.1:p.Lys432Glu
NM_001330209.2:c.1174A>G	NP_001317138.1:p.Lys392Glu
NM_001330210.2:c.874A>G	NP_001317139.1:p.Lys292Glu