Canonical Allele Identifier: CA10351848

Gene: OFD1

Linked Data

• ClinVar Variation Id: 2924095
• ClinVar RCV Id: RCV003785845
• dbSNP Id: rs758613947
• ExAC: X:13776479 G / A
• gnomAD v2: X-13776479-G-A
• gnomAD v3: X-13758360-G-A
• gnomAD v4: X-13758360-G-A
• MyVariant Identifiers: chrX:g.13776479G>A (hg19) ; chrX:g.13758360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758360G>A , CM000685.2:g.13758360G>A	GRCh38
NC_000023.10:g.13776479G>A , CM000685.1:g.13776479G>A	GRCh37
NC_000023.9:g.13686400G>A	NCBI36
NG_008872.1:g.28648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1259G>A	ENSP00000369941.2:n.*1259G>A
ENST00000398395.8:c.*1115+570G>A	ENSP00000381432.5:n.*1115+570G>A
ENST00000464463.6:n.1729G>A
ENST00000490265.6:n.2095G>A
ENST00000682237.1:c.*1126G>A	ENSP00000507121.1:n.*1126G>A
ENST00000682562.1:c.*2968G>A	ENSP00000507874.1:n.*2968G>A
ENST00000682953.1:c.*2293G>A	ENSP00000507878.1:n.*2293G>A
ENST00000683055.1:c.*881G>A	ENSP00000508191.1:n.*881G>A
ENST00000683284.1:c.*1797G>A	ENSP00000507837.1:n.*1797G>A
ENST00000683427.1:c.*311+570G>A	ENSP00000507290.1:n.*311+570G>A
ENST00000683454.1:n.1580G>A
ENST00000683637.1:n.2675G>A
ENST00000683655.1:c.*1780G>A	ENSP00000506770.1:n.*1780G>A
ENST00000683713.1:c.*1797G>A	ENSP00000507797.1:n.*1797G>A
ENST00000684577.1:c.*1263G>A	ENSP00000507871.1:n.*1263G>A
ENST00000340096.11:c.1566G>A MANE Select	ENSP00000344314.6:p.Lys522=
ENST00000340096.10:c.1566G>A	ENSP00000344314.6:p.Lys522=
ENST00000380550.6:c.1446G>A	ENSP00000369923.3:p.Lys482=
ENST00000380567.5:c.1146G>A	ENSP00000369941.1:p.Lys382=
ENST00000398395.7:c.1011+570G>A	ENSP00000381432.4:n.1011+570G>A
ENST00000490265.5:n.2541G>A
NM_003611.2:c.1566G>A	NP_003602.1:p.Lys522=
XM_005274599.2:c.1587G>A	XP_005274656.1:p.Lys529=
XM_005274602.2:c.1587G>A	XP_005274659.1:p.Lys529=
XM_005274603.2:c.1467G>A	XP_005274660.1:p.Lys489=
XM_005274604.2:c.1446G>A	XP_005274661.1:p.Lys482=
XM_005274606.2:c.1422G>A	XP_005274663.1:p.Lys474=
XM_005274607.3:c.1146G>A	XP_005274664.1:p.Lys382=
XM_011545591.1:c.1587G>A	XP_011543893.1:p.Lys529=
XM_011545592.1:c.1374G>A	XP_011543894.1:p.Lys458=
XM_011545593.1:c.1587G>A	XP_011543895.1:p.Lys529=
XM_011545594.1:c.1245G>A	XP_011543896.1:p.Lys415=
XM_011545595.1:c.1245G>A	XP_011543897.1:p.Lys415=
XM_011545596.1:c.1587G>A	XP_011543898.1:p.Lys529=
XM_011545597.1:c.1146G>A	XP_011543899.1:p.Lys382=
XM_011545598.1:c.291G>A	XP_011543900.1:p.Lys97=
XR_247288.2:n.1926G>A
NM_001330209.1:c.1446G>A	NP_001317138.1:p.Lys482=
NM_001330210.1:c.1146G>A	NP_001317139.1:p.Lys382=
XM_005274606.4:c.1422G>A	XP_005274663.1:p.Lys474=
XM_011545592.3:c.1374G>A	XP_011543894.1:p.Lys458=
XM_011545594.3:c.1245G>A	XP_011543896.1:p.Lys415=
XM_011545597.2:c.1146G>A	XP_011543899.1:p.Lys382=
XM_017029909.1:c.1146G>A	XP_016885398.1:p.Lys382=
XM_017029911.1:c.624G>A	XP_016885400.1:p.Lys208=
XM_024452468.1:c.291G>A	XP_024308236.1:p.Lys97=
XM_024452469.1:c.291G>A	XP_024308237.1:p.Lys97=
XM_024452470.1:c.291G>A	XP_024308238.1:p.Lys97=
XM_024452471.1:c.291G>A	XP_024308239.1:p.Lys97=
NM_003611.3:c.1566G>A MANE Select	NP_003602.1:p.Lys522=
NM_001330209.2:c.1446G>A	NP_001317138.1:p.Lys482=
NM_001330210.2:c.1146G>A	NP_001317139.1:p.Lys382=