Canonical Allele Identifier: CA412343450

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776539A>C (hg19) ; chrX:g.13758420A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758420A>C , CM000685.2:g.13758420A>C	GRCh38
NC_000023.10:g.13776539A>C , CM000685.1:g.13776539A>C	GRCh37
NC_000023.9:g.13686460A>C	NCBI36
NG_008872.1:g.28708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1319A>C	ENSP00000369941.2:n.*1319A>C
ENST00000398395.8:c.*1115+630A>C	ENSP00000381432.5:n.*1115+630A>C
ENST00000464463.6:n.1789A>C
ENST00000490265.6:n.2155A>C
ENST00000682237.1:c.*1186A>C	ENSP00000507121.1:n.*1186A>C
ENST00000682562.1:c.*3028A>C	ENSP00000507874.1:n.*3028A>C
ENST00000682953.1:c.*2353A>C	ENSP00000507878.1:n.*2353A>C
ENST00000683055.1:c.*941A>C	ENSP00000508191.1:n.*941A>C
ENST00000683284.1:c.*1857A>C	ENSP00000507837.1:n.*1857A>C
ENST00000683427.1:c.*311+630A>C	ENSP00000507290.1:n.*311+630A>C
ENST00000683454.1:n.1640A>C
ENST00000683637.1:n.2735A>C
ENST00000683655.1:c.*1840A>C	ENSP00000506770.1:n.*1840A>C
ENST00000683713.1:c.*1857A>C	ENSP00000507797.1:n.*1857A>C
ENST00000684577.1:c.*1323A>C	ENSP00000507871.1:n.*1323A>C
ENST00000340096.11:c.1626A>C MANE Select	ENSP00000344314.6:p.Leu542Phe
ENST00000340096.10:c.1626A>C	ENSP00000344314.6:p.Leu542Phe
ENST00000380550.6:c.1506A>C	ENSP00000369923.3:p.Leu502Phe
ENST00000380567.5:c.1206A>C	ENSP00000369941.1:p.Leu402Phe
ENST00000398395.7:c.1011+630A>C	ENSP00000381432.4:n.1011+630A>C
ENST00000490265.5:n.2601A>C
NM_003611.2:c.1626A>C	NP_003602.1:p.Leu542Phe
XM_005274599.2:c.1647A>C	XP_005274656.1:p.Leu549Phe
XM_005274602.2:c.1647A>C	XP_005274659.1:p.Leu549Phe
XM_005274603.2:c.1527A>C	XP_005274660.1:p.Leu509Phe
XM_005274604.2:c.1506A>C	XP_005274661.1:p.Leu502Phe
XM_005274606.2:c.1482A>C	XP_005274663.1:p.Leu494Phe
XM_005274607.3:c.1206A>C	XP_005274664.1:p.Leu402Phe
XM_011545591.1:c.1647A>C	XP_011543893.1:p.Leu549Phe
XM_011545592.1:c.1434A>C	XP_011543894.1:p.Leu478Phe
XM_011545593.1:c.1647A>C	XP_011543895.1:p.Leu549Phe
XM_011545594.1:c.1305A>C	XP_011543896.1:p.Leu435Phe
XM_011545595.1:c.1305A>C	XP_011543897.1:p.Leu435Phe
XM_011545596.1:c.1647A>C	XP_011543898.1:p.Leu549Phe
XM_011545597.1:c.1206A>C	XP_011543899.1:p.Leu402Phe
XM_011545598.1:c.351A>C	XP_011543900.1:p.Leu117Phe
XR_247288.2:n.1986A>C
NM_001330209.1:c.1506A>C	NP_001317138.1:p.Leu502Phe
NM_001330210.1:c.1206A>C	NP_001317139.1:p.Leu402Phe
XM_005274606.4:c.1482A>C	XP_005274663.1:p.Leu494Phe
XM_011545592.3:c.1434A>C	XP_011543894.1:p.Leu478Phe
XM_011545594.3:c.1305A>C	XP_011543896.1:p.Leu435Phe
XM_011545597.2:c.1206A>C	XP_011543899.1:p.Leu402Phe
XM_017029909.1:c.1206A>C	XP_016885398.1:p.Leu402Phe
XM_017029911.1:c.684A>C	XP_016885400.1:p.Leu228Phe
XM_024452468.1:c.351A>C	XP_024308236.1:p.Leu117Phe
XM_024452469.1:c.351A>C	XP_024308237.1:p.Leu117Phe
XM_024452470.1:c.351A>C	XP_024308238.1:p.Leu117Phe
XM_024452471.1:c.351A>C	XP_024308239.1:p.Leu117Phe
NM_003611.3:c.1626A>C MANE Select	NP_003602.1:p.Leu542Phe
NM_001330209.2:c.1506A>C	NP_001317138.1:p.Leu502Phe
NM_001330210.2:c.1206A>C	NP_001317139.1:p.Leu402Phe