Canonical Allele Identifier: CA515466313

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13779208G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761089G>A , CM000685.2:g.13761089G>A	GRCh38
NC_000023.10:g.13779208G>A , CM000685.1:g.13779208G>A	GRCh37
NC_000023.9:g.13689129G>A	NCBI36
NG_008872.1:g.31377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1958G>A	ENSP00000369941.2:n.*1958G>A
ENST00000398395.8:c.*1726G>A	ENSP00000381432.5:n.*1726G>A
ENST00000464463.6:n.4094G>A
ENST00000490265.6:n.2794G>A
ENST00000682237.1:c.*1825G>A	ENSP00000507121.1:n.*1825G>A
ENST00000682562.1:c.*3667G>A	ENSP00000507874.1:n.*3667G>A
ENST00000682953.1:c.*2992G>A	ENSP00000507878.1:n.*2992G>A
ENST00000683055.1:c.*3246G>A	ENSP00000508191.1:n.*3246G>A
ENST00000683284.1:c.*2496G>A	ENSP00000507837.1:n.*2496G>A
ENST00000683427.1:c.*922G>A	ENSP00000507290.1:n.*922G>A
ENST00000683454.1:n.2279G>A
ENST00000683637.1:n.3374G>A
ENST00000683655.1:c.*2479G>A	ENSP00000506770.1:n.*2479G>A
ENST00000683713.1:c.*2496G>A	ENSP00000507797.1:n.*2496G>A
ENST00000684577.1:c.*1962G>A	ENSP00000507871.1:n.*1962G>A
ENST00000340096.11:c.2265G>A MANE Select	ENSP00000344314.6:p.Leu755=
ENST00000340096.10:c.2265G>A	ENSP00000344314.6:p.Leu755=
ENST00000380550.6:c.2145G>A	ENSP00000369923.3:p.Leu715=
ENST00000380567.5:c.1845G>A	ENSP00000369941.1:p.Leu615=
ENST00000398395.7:c.*605G>A	ENSP00000381432.4:n.*605G>A
ENST00000464463.5:n.86G>A
ENST00000490265.5:n.3240G>A
NM_003611.2:c.2265G>A	NP_003602.1:p.Leu755=
XM_005274599.2:c.2286G>A	XP_005274656.1:p.Leu762=
XM_005274602.2:c.2286G>A	XP_005274659.1:p.Leu762=
XM_005274603.2:c.2166G>A	XP_005274660.1:p.Leu722=
XM_005274604.2:c.2145G>A	XP_005274661.1:p.Leu715=
XM_005274606.2:c.2121G>A	XP_005274663.1:p.Leu707=
XM_005274607.3:c.1845G>A	XP_005274664.1:p.Leu615=
XM_011545591.1:c.2286G>A	XP_011543893.1:p.Leu762=
XM_011545592.1:c.2073G>A	XP_011543894.1:p.Leu691=
XM_011545593.1:c.2286G>A	XP_011543895.1:p.Leu762=
XM_011545594.1:c.1944G>A	XP_011543896.1:p.Leu648=
XM_011545595.1:c.1944G>A	XP_011543897.1:p.Leu648=
XM_011545596.1:c.2286G>A	XP_011543898.1:p.Leu762=
XM_011545597.1:c.1845G>A	XP_011543899.1:p.Leu615=
XM_011545598.1:c.990G>A	XP_011543900.1:p.Leu330=
XR_247288.2:n.2625G>A
NM_001330209.1:c.2145G>A	NP_001317138.1:p.Leu715=
NM_001330210.1:c.1845G>A	NP_001317139.1:p.Leu615=
XM_005274606.4:c.2121G>A	XP_005274663.1:p.Leu707=
XM_011545592.3:c.2073G>A	XP_011543894.1:p.Leu691=
XM_011545594.3:c.1944G>A	XP_011543896.1:p.Leu648=
XM_011545597.2:c.1845G>A	XP_011543899.1:p.Leu615=
XM_017029909.1:c.1845G>A	XP_016885398.1:p.Leu615=
XM_017029911.1:c.1323G>A	XP_016885400.1:p.Leu441=
XM_024452468.1:c.990G>A	XP_024308236.1:p.Leu330=
XM_024452469.1:c.990G>A	XP_024308237.1:p.Leu330=
XM_024452470.1:c.990G>A	XP_024308238.1:p.Leu330=
XM_024452471.1:c.990G>A	XP_024308239.1:p.Leu330=
NM_003611.3:c.2265G>A MANE Select	NP_003602.1:p.Leu755=
NM_001330209.2:c.2145G>A	NP_001317138.1:p.Leu715=
NM_001330210.2:c.1845G>A	NP_001317139.1:p.Leu615=