Canonical Allele Identifier: CA207194

Gene: OFD1

Linked Data

• ClinVar Variation Id: 211788
• ClinVar RCV Id: RCV000193601 ; RCV004020332
• dbSNP Id: rs797045847
• gnomAD v4: X-13767146-T-A
• MyVariant Identifiers: chrX:g.13785265T>A (hg19) ; chrX:g.13767146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767146T>A , CM000685.2:g.13767146T>A	GRCh38
NC_000023.10:g.13785265T>A , CM000685.1:g.13785265T>A	GRCh37
NC_000023.9:g.13695186T>A	NCBI36
NG_008872.1:g.37434T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2312T>A	ENSP00000369941.2:n.*2312T>A
ENST00000398395.8:c.*2080T>A	ENSP00000381432.5:n.*2080T>A
ENST00000464463.6:n.4448T>A
ENST00000490265.6:n.3148T>A
ENST00000682237.1:c.*2179T>A	ENSP00000507121.1:n.*2179T>A
ENST00000682562.1:c.*3910T>A	ENSP00000507874.1:n.*3910T>A
ENST00000682953.1:c.*3235T>A	ENSP00000507878.1:n.*3235T>A
ENST00000683055.1:c.*3489T>A	ENSP00000508191.1:n.*3489T>A
ENST00000683284.1:c.*2850T>A	ENSP00000507837.1:n.*2850T>A
ENST00000683427.1:c.*1276T>A	ENSP00000507290.1:n.*1276T>A
ENST00000683454.1:n.2633T>A
ENST00000683637.1:n.3728T>A
ENST00000683655.1:c.*2833T>A	ENSP00000506770.1:n.*2833T>A
ENST00000683713.1:c.*2850T>A	ENSP00000507797.1:n.*2850T>A
ENST00000684577.1:c.*2205T>A	ENSP00000507871.1:n.*2205T>A
ENST00000340096.11:c.2619T>A MANE Select	ENSP00000344314.6:p.Ile873=
ENST00000340096.10:c.2619T>A	ENSP00000344314.6:p.Ile873=
ENST00000380550.6:c.2499T>A	ENSP00000369923.3:p.Ile833=
ENST00000380567.5:c.2199T>A	ENSP00000369941.1:p.Ile733=
ENST00000398395.7:c.*959T>A	ENSP00000381432.4:n.*959T>A
ENST00000464463.5:n.329T>A
ENST00000490265.5:n.3594T>A
NM_003611.2:c.2619T>A	NP_003602.1:p.Ile873=
XM_005274599.2:c.2640T>A	XP_005274656.1:p.Ile880=
XM_005274602.2:c.2529T>A	XP_005274659.1:p.Ile843=
XM_005274603.2:c.2520T>A	XP_005274660.1:p.Ile840=
XM_005274604.2:c.2499T>A	XP_005274661.1:p.Ile833=
XM_005274606.2:c.2475T>A	XP_005274663.1:p.Ile825=
XM_005274607.3:c.2199T>A	XP_005274664.1:p.Ile733=
XM_011545591.1:c.2640T>A	XP_011543893.1:p.Ile880=
XM_011545592.1:c.2427T>A	XP_011543894.1:p.Ile809=
XM_011545593.1:c.2640T>A	XP_011543895.1:p.Ile880=
XM_011545594.1:c.2298T>A	XP_011543896.1:p.Ile766=
XM_011545595.1:c.2298T>A	XP_011543897.1:p.Ile766=
XM_011545596.1:c.2510-908T>A	XP_011543898.1:n.2510-908T>A
XM_011545597.1:c.2088T>A	XP_011543899.1:p.Ile696=
XM_011545598.1:c.1344T>A	XP_011543900.1:p.Ile448=
XR_247288.2:n.2960-908T>A
NM_001330209.1:c.2499T>A	NP_001317138.1:p.Ile833=
NM_001330210.1:c.2199T>A	NP_001317139.1:p.Ile733=
XM_005274606.4:c.2475T>A	XP_005274663.1:p.Ile825=
XM_011545592.3:c.2427T>A	XP_011543894.1:p.Ile809=
XM_011545594.3:c.2298T>A	XP_011543896.1:p.Ile766=
XM_011545597.2:c.2088T>A	XP_011543899.1:p.Ile696=
XM_017029909.1:c.2199T>A	XP_016885398.1:p.Ile733=
XM_017029911.1:c.1677T>A	XP_016885400.1:p.Ile559=
XM_024452468.1:c.1344T>A	XP_024308236.1:p.Ile448=
XM_024452469.1:c.1344T>A	XP_024308237.1:p.Ile448=
XM_024452470.1:c.1344T>A	XP_024308238.1:p.Ile448=
XM_024452471.1:c.1233T>A	XP_024308239.1:p.Ile411=
NM_003611.3:c.2619T>A MANE Select	NP_003602.1:p.Ile873=
NM_001330209.2:c.2499T>A	NP_001317138.1:p.Ile833=
NM_001330210.2:c.2199T>A	NP_001317139.1:p.Ile733=