Canonical Allele Identifier: CA412343504

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1777203
• ClinVar RCV Id: RCV003097055 ; RCV004058175
• dbSNP Id: rs2047797164
• gnomAD v4: X-13758443-A-T
• MyVariant Identifiers: chrX:g.13776562A>T (hg19) ; chrX:g.13758443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758443A>T , CM000685.2:g.13758443A>T	GRCh38
NC_000023.10:g.13776562A>T , CM000685.1:g.13776562A>T	GRCh37
NC_000023.9:g.13686483A>T	NCBI36
NG_008872.1:g.28731A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1342A>T	ENSP00000369941.2:n.*1342A>T
ENST00000398395.8:c.*1115+653A>T	ENSP00000381432.5:n.*1115+653A>T
ENST00000464463.6:n.1812A>T
ENST00000490265.6:n.2178A>T
ENST00000682237.1:c.*1209A>T	ENSP00000507121.1:n.*1209A>T
ENST00000682562.1:c.*3051A>T	ENSP00000507874.1:n.*3051A>T
ENST00000682953.1:c.*2376A>T	ENSP00000507878.1:n.*2376A>T
ENST00000683055.1:c.*964A>T	ENSP00000508191.1:n.*964A>T
ENST00000683284.1:c.*1880A>T	ENSP00000507837.1:n.*1880A>T
ENST00000683427.1:c.*311+653A>T	ENSP00000507290.1:n.*311+653A>T
ENST00000683454.1:n.1663A>T
ENST00000683637.1:n.2758A>T
ENST00000683655.1:c.*1863A>T	ENSP00000506770.1:n.*1863A>T
ENST00000683713.1:c.*1880A>T	ENSP00000507797.1:n.*1880A>T
ENST00000684577.1:c.*1346A>T	ENSP00000507871.1:n.*1346A>T
ENST00000340096.11:c.1649A>T MANE Select	ENSP00000344314.6:p.Gln550Leu
ENST00000340096.10:c.1649A>T	ENSP00000344314.6:p.Gln550Leu
ENST00000380550.6:c.1529A>T	ENSP00000369923.3:p.Gln510Leu
ENST00000380567.5:c.1229A>T	ENSP00000369941.1:p.Gln410Leu
ENST00000398395.7:c.1011+653A>T	ENSP00000381432.4:n.1011+653A>T
ENST00000490265.5:n.2624A>T
NM_003611.2:c.1649A>T	NP_003602.1:p.Gln550Leu
XM_005274599.2:c.1670A>T	XP_005274656.1:p.Gln557Leu
XM_005274602.2:c.1670A>T	XP_005274659.1:p.Gln557Leu
XM_005274603.2:c.1550A>T	XP_005274660.1:p.Gln517Leu
XM_005274604.2:c.1529A>T	XP_005274661.1:p.Gln510Leu
XM_005274606.2:c.1505A>T	XP_005274663.1:p.Gln502Leu
XM_005274607.3:c.1229A>T	XP_005274664.1:p.Gln410Leu
XM_011545591.1:c.1670A>T	XP_011543893.1:p.Gln557Leu
XM_011545592.1:c.1457A>T	XP_011543894.1:p.Gln486Leu
XM_011545593.1:c.1670A>T	XP_011543895.1:p.Gln557Leu
XM_011545594.1:c.1328A>T	XP_011543896.1:p.Gln443Leu
XM_011545595.1:c.1328A>T	XP_011543897.1:p.Gln443Leu
XM_011545596.1:c.1670A>T	XP_011543898.1:p.Gln557Leu
XM_011545597.1:c.1229A>T	XP_011543899.1:p.Gln410Leu
XM_011545598.1:c.374A>T	XP_011543900.1:p.Gln125Leu
XR_247288.2:n.2009A>T
NM_001330209.1:c.1529A>T	NP_001317138.1:p.Gln510Leu
NM_001330210.1:c.1229A>T	NP_001317139.1:p.Gln410Leu
XM_005274606.4:c.1505A>T	XP_005274663.1:p.Gln502Leu
XM_011545592.3:c.1457A>T	XP_011543894.1:p.Gln486Leu
XM_011545594.3:c.1328A>T	XP_011543896.1:p.Gln443Leu
XM_011545597.2:c.1229A>T	XP_011543899.1:p.Gln410Leu
XM_017029909.1:c.1229A>T	XP_016885398.1:p.Gln410Leu
XM_017029911.1:c.707A>T	XP_016885400.1:p.Gln236Leu
XM_024452468.1:c.374A>T	XP_024308236.1:p.Gln125Leu
XM_024452469.1:c.374A>T	XP_024308237.1:p.Gln125Leu
XM_024452470.1:c.374A>T	XP_024308238.1:p.Gln125Leu
XM_024452471.1:c.374A>T	XP_024308239.1:p.Gln125Leu
NM_003611.3:c.1649A>T MANE Select	NP_003602.1:p.Gln550Leu
NM_001330209.2:c.1529A>T	NP_001317138.1:p.Gln510Leu
NM_001330210.2:c.1229A>T	NP_001317139.1:p.Gln410Leu