Canonical Allele Identifier: CA10351853

Gene: OFD1

Linked Data

• ClinVar Variation Id: 2152800
• ClinVar RCV Id: RCV003075173
• dbSNP Id: rs766216982
• ExAC: X:13776534 G / A
• gnomAD v2: X-13776534-G-A
• gnomAD v4: X-13758415-G-A
• COSMIC: COSM6283732
• MyVariant Identifiers: chrX:g.13776534G>A (hg19) ; chrX:g.13758415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758415G>A , CM000685.2:g.13758415G>A	GRCh38
NC_000023.10:g.13776534G>A , CM000685.1:g.13776534G>A	GRCh37
NC_000023.9:g.13686455G>A	NCBI36
NG_008872.1:g.28703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1314G>A	ENSP00000369941.2:n.*1314G>A
ENST00000398395.8:c.*1115+625G>A	ENSP00000381432.5:n.*1115+625G>A
ENST00000464463.6:n.1784G>A
ENST00000490265.6:n.2150G>A
ENST00000682237.1:c.*1181G>A	ENSP00000507121.1:n.*1181G>A
ENST00000682562.1:c.*3023G>A	ENSP00000507874.1:n.*3023G>A
ENST00000682953.1:c.*2348G>A	ENSP00000507878.1:n.*2348G>A
ENST00000683055.1:c.*936G>A	ENSP00000508191.1:n.*936G>A
ENST00000683284.1:c.*1852G>A	ENSP00000507837.1:n.*1852G>A
ENST00000683427.1:c.*311+625G>A	ENSP00000507290.1:n.*311+625G>A
ENST00000683454.1:n.1635G>A
ENST00000683637.1:n.2730G>A
ENST00000683655.1:c.*1835G>A	ENSP00000506770.1:n.*1835G>A
ENST00000683713.1:c.*1852G>A	ENSP00000507797.1:n.*1852G>A
ENST00000684577.1:c.*1318G>A	ENSP00000507871.1:n.*1318G>A
ENST00000340096.11:c.1621G>A MANE Select	ENSP00000344314.6:p.Asp541Asn
ENST00000340096.10:c.1621G>A	ENSP00000344314.6:p.Asp541Asn
ENST00000380550.6:c.1501G>A	ENSP00000369923.3:p.Asp501Asn
ENST00000380567.5:c.1201G>A	ENSP00000369941.1:p.Asp401Asn
ENST00000398395.7:c.1011+625G>A	ENSP00000381432.4:n.1011+625G>A
ENST00000490265.5:n.2596G>A
NM_003611.2:c.1621G>A	NP_003602.1:p.Asp541Asn
XM_005274599.2:c.1642G>A	XP_005274656.1:p.Asp548Asn
XM_005274602.2:c.1642G>A	XP_005274659.1:p.Asp548Asn
XM_005274603.2:c.1522G>A	XP_005274660.1:p.Asp508Asn
XM_005274604.2:c.1501G>A	XP_005274661.1:p.Asp501Asn
XM_005274606.2:c.1477G>A	XP_005274663.1:p.Asp493Asn
XM_005274607.3:c.1201G>A	XP_005274664.1:p.Asp401Asn
XM_011545591.1:c.1642G>A	XP_011543893.1:p.Asp548Asn
XM_011545592.1:c.1429G>A	XP_011543894.1:p.Asp477Asn
XM_011545593.1:c.1642G>A	XP_011543895.1:p.Asp548Asn
XM_011545594.1:c.1300G>A	XP_011543896.1:p.Asp434Asn
XM_011545595.1:c.1300G>A	XP_011543897.1:p.Asp434Asn
XM_011545596.1:c.1642G>A	XP_011543898.1:p.Asp548Asn
XM_011545597.1:c.1201G>A	XP_011543899.1:p.Asp401Asn
XM_011545598.1:c.346G>A	XP_011543900.1:p.Asp116Asn
XR_247288.2:n.1981G>A
NM_001330209.1:c.1501G>A	NP_001317138.1:p.Asp501Asn
NM_001330210.1:c.1201G>A	NP_001317139.1:p.Asp401Asn
XM_005274606.4:c.1477G>A	XP_005274663.1:p.Asp493Asn
XM_011545592.3:c.1429G>A	XP_011543894.1:p.Asp477Asn
XM_011545594.3:c.1300G>A	XP_011543896.1:p.Asp434Asn
XM_011545597.2:c.1201G>A	XP_011543899.1:p.Asp401Asn
XM_017029909.1:c.1201G>A	XP_016885398.1:p.Asp401Asn
XM_017029911.1:c.679G>A	XP_016885400.1:p.Asp227Asn
XM_024452468.1:c.346G>A	XP_024308236.1:p.Asp116Asn
XM_024452469.1:c.346G>A	XP_024308237.1:p.Asp116Asn
XM_024452470.1:c.346G>A	XP_024308238.1:p.Asp116Asn
XM_024452471.1:c.346G>A	XP_024308239.1:p.Asp116Asn
NM_003611.3:c.1621G>A MANE Select	NP_003602.1:p.Asp541Asn
NM_001330209.2:c.1501G>A	NP_001317138.1:p.Asp501Asn
NM_001330210.2:c.1201G>A	NP_001317139.1:p.Asp401Asn