Canonical Allele Identifier: CA10351857

Gene: OFD1

Linked Data

• ClinVar Variation Id: 447888
• ClinVar RCV Id: RCV000517838 ; RCV000867745 ; RCV002527503
• dbSNP Id: rs373792491
• ExAC: X:13776547 A / G
• gnomAD v2: X-13776547-A-G
• gnomAD v3: X-13758428-A-G
• gnomAD v4: X-13758428-A-G
• MyVariant Identifiers: chrX:g.13776547A>G (hg19) ; chrX:g.13758428A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758428A>G , CM000685.2:g.13758428A>G	GRCh38
NC_000023.10:g.13776547A>G , CM000685.1:g.13776547A>G	GRCh37
NC_000023.9:g.13686468A>G	NCBI36
NG_008872.1:g.28716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1327A>G	ENSP00000369941.2:n.*1327A>G
ENST00000398395.8:c.*1115+638A>G	ENSP00000381432.5:n.*1115+638A>G
ENST00000464463.6:n.1797A>G
ENST00000490265.6:n.2163A>G
ENST00000682237.1:c.*1194A>G	ENSP00000507121.1:n.*1194A>G
ENST00000682562.1:c.*3036A>G	ENSP00000507874.1:n.*3036A>G
ENST00000682953.1:c.*2361A>G	ENSP00000507878.1:n.*2361A>G
ENST00000683055.1:c.*949A>G	ENSP00000508191.1:n.*949A>G
ENST00000683284.1:c.*1865A>G	ENSP00000507837.1:n.*1865A>G
ENST00000683427.1:c.*311+638A>G	ENSP00000507290.1:n.*311+638A>G
ENST00000683454.1:n.1648A>G
ENST00000683637.1:n.2743A>G
ENST00000683655.1:c.*1848A>G	ENSP00000506770.1:n.*1848A>G
ENST00000683713.1:c.*1865A>G	ENSP00000507797.1:n.*1865A>G
ENST00000684577.1:c.*1331A>G	ENSP00000507871.1:n.*1331A>G
ENST00000340096.11:c.1634A>G MANE Select	ENSP00000344314.6:p.Gln545Arg
ENST00000340096.10:c.1634A>G	ENSP00000344314.6:p.Gln545Arg
ENST00000380550.6:c.1514A>G	ENSP00000369923.3:p.Gln505Arg
ENST00000380567.5:c.1214A>G	ENSP00000369941.1:p.Gln405Arg
ENST00000398395.7:c.1011+638A>G	ENSP00000381432.4:n.1011+638A>G
ENST00000490265.5:n.2609A>G
NM_003611.2:c.1634A>G	NP_003602.1:p.Gln545Arg
XM_005274599.2:c.1655A>G	XP_005274656.1:p.Gln552Arg
XM_005274602.2:c.1655A>G	XP_005274659.1:p.Gln552Arg
XM_005274603.2:c.1535A>G	XP_005274660.1:p.Gln512Arg
XM_005274604.2:c.1514A>G	XP_005274661.1:p.Gln505Arg
XM_005274606.2:c.1490A>G	XP_005274663.1:p.Gln497Arg
XM_005274607.3:c.1214A>G	XP_005274664.1:p.Gln405Arg
XM_011545591.1:c.1655A>G	XP_011543893.1:p.Gln552Arg
XM_011545592.1:c.1442A>G	XP_011543894.1:p.Gln481Arg
XM_011545593.1:c.1655A>G	XP_011543895.1:p.Gln552Arg
XM_011545594.1:c.1313A>G	XP_011543896.1:p.Gln438Arg
XM_011545595.1:c.1313A>G	XP_011543897.1:p.Gln438Arg
XM_011545596.1:c.1655A>G	XP_011543898.1:p.Gln552Arg
XM_011545597.1:c.1214A>G	XP_011543899.1:p.Gln405Arg
XM_011545598.1:c.359A>G	XP_011543900.1:p.Gln120Arg
XR_247288.2:n.1994A>G
NM_001330209.1:c.1514A>G	NP_001317138.1:p.Gln505Arg
NM_001330210.1:c.1214A>G	NP_001317139.1:p.Gln405Arg
XM_005274606.4:c.1490A>G	XP_005274663.1:p.Gln497Arg
XM_011545592.3:c.1442A>G	XP_011543894.1:p.Gln481Arg
XM_011545594.3:c.1313A>G	XP_011543896.1:p.Gln438Arg
XM_011545597.2:c.1214A>G	XP_011543899.1:p.Gln405Arg
XM_017029909.1:c.1214A>G	XP_016885398.1:p.Gln405Arg
XM_017029911.1:c.692A>G	XP_016885400.1:p.Gln231Arg
XM_024452468.1:c.359A>G	XP_024308236.1:p.Gln120Arg
XM_024452469.1:c.359A>G	XP_024308237.1:p.Gln120Arg
XM_024452470.1:c.359A>G	XP_024308238.1:p.Gln120Arg
XM_024452471.1:c.359A>G	XP_024308239.1:p.Gln120Arg
NM_003611.3:c.1634A>G MANE Select	NP_003602.1:p.Gln545Arg
NM_001330209.2:c.1514A>G	NP_001317138.1:p.Gln505Arg
NM_001330210.2:c.1214A>G	NP_001317139.1:p.Gln405Arg