Canonical Allele Identifier: CA172899

Gene: OFD1

Linked Data

• ClinVar Variation Id: 159472
• ClinVar RCV Id: RCV000146985 ; RCV000477252 ; RCV001689688 ; RCV004019775 ; RCV002492533
• dbSNP Id: rs149647255
• ExAC: X:13785309 A / C
• gnomAD v2: X-13785309-A-C
• gnomAD v3: X-13767190-A-C
• gnomAD v4: X-13767190-A-C
• MyVariant Identifiers: chrX:g.13785309A>C (hg19) ; chrX:g.13767190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767190A>C , CM000685.2:g.13767190A>C	GRCh38
NC_000023.10:g.13785309A>C , CM000685.1:g.13785309A>C	GRCh37
NC_000023.9:g.13695230A>C	NCBI36
NG_008872.1:g.37478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2356A>C	ENSP00000369941.2:n.*2356A>C
ENST00000398395.8:c.*2124A>C	ENSP00000381432.5:n.*2124A>C
ENST00000464463.6:n.4492A>C
ENST00000490265.6:n.3192A>C
ENST00000682237.1:c.*2223A>C	ENSP00000507121.1:n.*2223A>C
ENST00000682562.1:c.*3954A>C	ENSP00000507874.1:n.*3954A>C
ENST00000682953.1:c.*3279A>C	ENSP00000507878.1:n.*3279A>C
ENST00000683055.1:c.*3533A>C	ENSP00000508191.1:n.*3533A>C
ENST00000683284.1:c.*2894A>C	ENSP00000507837.1:n.*2894A>C
ENST00000683427.1:c.*1320A>C	ENSP00000507290.1:n.*1320A>C
ENST00000683454.1:n.2677A>C
ENST00000683637.1:n.3772A>C
ENST00000683655.1:c.*2877A>C	ENSP00000506770.1:n.*2877A>C
ENST00000683713.1:c.*2894A>C	ENSP00000507797.1:n.*2894A>C
ENST00000684577.1:c.*2249A>C	ENSP00000507871.1:n.*2249A>C
ENST00000340096.11:c.2663A>C MANE Select	ENSP00000344314.6:p.Lys888Thr
ENST00000340096.10:c.2663A>C	ENSP00000344314.6:p.Lys888Thr
ENST00000380550.6:c.2543A>C	ENSP00000369923.3:p.Lys848Thr
ENST00000380567.5:c.2243A>C	ENSP00000369941.1:p.Lys748Thr
ENST00000398395.7:c.*1003A>C	ENSP00000381432.4:n.*1003A>C
ENST00000464463.5:n.373A>C
ENST00000490265.5:n.3638A>C
NM_003611.2:c.2663A>C	NP_003602.1:p.Lys888Thr
XM_005274599.2:c.2684A>C	XP_005274656.1:p.Lys895Thr
XM_005274602.2:c.2573A>C	XP_005274659.1:p.Lys858Thr
XM_005274603.2:c.2564A>C	XP_005274660.1:p.Lys855Thr
XM_005274604.2:c.2543A>C	XP_005274661.1:p.Lys848Thr
XM_005274606.2:c.2519A>C	XP_005274663.1:p.Lys840Thr
XM_005274607.3:c.2243A>C	XP_005274664.1:p.Lys748Thr
XM_011545591.1:c.2684A>C	XP_011543893.1:p.Lys895Thr
XM_011545592.1:c.2471A>C	XP_011543894.1:p.Lys824Thr
XM_011545593.1:c.2684A>C	XP_011543895.1:p.Lys895Thr
XM_011545594.1:c.2342A>C	XP_011543896.1:p.Lys781Thr
XM_011545595.1:c.2342A>C	XP_011543897.1:p.Lys781Thr
XM_011545596.1:c.2510-864A>C	XP_011543898.1:n.2510-864A>C
XM_011545597.1:c.2132A>C	XP_011543899.1:p.Lys711Thr
XM_011545598.1:c.1388A>C	XP_011543900.1:p.Lys463Thr
XR_247288.2:n.2960-864A>C
NM_001330209.1:c.2543A>C	NP_001317138.1:p.Lys848Thr
NM_001330210.1:c.2243A>C	NP_001317139.1:p.Lys748Thr
XM_005274606.4:c.2519A>C	XP_005274663.1:p.Lys840Thr
XM_011545592.3:c.2471A>C	XP_011543894.1:p.Lys824Thr
XM_011545594.3:c.2342A>C	XP_011543896.1:p.Lys781Thr
XM_011545597.2:c.2132A>C	XP_011543899.1:p.Lys711Thr
XM_017029909.1:c.2243A>C	XP_016885398.1:p.Lys748Thr
XM_017029911.1:c.1721A>C	XP_016885400.1:p.Lys574Thr
XM_024452468.1:c.1388A>C	XP_024308236.1:p.Lys463Thr
XM_024452469.1:c.1388A>C	XP_024308237.1:p.Lys463Thr
XM_024452470.1:c.1388A>C	XP_024308238.1:p.Lys463Thr
XM_024452471.1:c.1277A>C	XP_024308239.1:p.Lys426Thr
NM_003611.3:c.2663A>C MANE Select	NP_003602.1:p.Lys888Thr
NM_001330209.2:c.2543A>C	NP_001317138.1:p.Lys848Thr
NM_001330210.2:c.2243A>C	NP_001317139.1:p.Lys748Thr