Canonical Allele Identifier: CA412343392

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776511A>C (hg19) ; chrX:g.13758392A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758392A>C , CM000685.2:g.13758392A>C	GRCh38
NC_000023.10:g.13776511A>C , CM000685.1:g.13776511A>C	GRCh37
NC_000023.9:g.13686432A>C	NCBI36
NG_008872.1:g.28680A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1291A>C	ENSP00000369941.2:n.*1291A>C
ENST00000398395.8:c.*1115+602A>C	ENSP00000381432.5:n.*1115+602A>C
ENST00000464463.6:n.1761A>C
ENST00000490265.6:n.2127A>C
ENST00000682237.1:c.*1158A>C	ENSP00000507121.1:n.*1158A>C
ENST00000682562.1:c.*3000A>C	ENSP00000507874.1:n.*3000A>C
ENST00000682953.1:c.*2325A>C	ENSP00000507878.1:n.*2325A>C
ENST00000683055.1:c.*913A>C	ENSP00000508191.1:n.*913A>C
ENST00000683284.1:c.*1829A>C	ENSP00000507837.1:n.*1829A>C
ENST00000683427.1:c.*311+602A>C	ENSP00000507290.1:n.*311+602A>C
ENST00000683454.1:n.1612A>C
ENST00000683637.1:n.2707A>C
ENST00000683655.1:c.*1812A>C	ENSP00000506770.1:n.*1812A>C
ENST00000683713.1:c.*1829A>C	ENSP00000507797.1:n.*1829A>C
ENST00000684577.1:c.*1295A>C	ENSP00000507871.1:n.*1295A>C
ENST00000340096.11:c.1598A>C MANE Select	ENSP00000344314.6:p.Lys533Thr
ENST00000340096.10:c.1598A>C	ENSP00000344314.6:p.Lys533Thr
ENST00000380550.6:c.1478A>C	ENSP00000369923.3:p.Lys493Thr
ENST00000380567.5:c.1178A>C	ENSP00000369941.1:p.Lys393Thr
ENST00000398395.7:c.1011+602A>C	ENSP00000381432.4:n.1011+602A>C
ENST00000490265.5:n.2573A>C
NM_003611.2:c.1598A>C	NP_003602.1:p.Lys533Thr
XM_005274599.2:c.1619A>C	XP_005274656.1:p.Lys540Thr
XM_005274602.2:c.1619A>C	XP_005274659.1:p.Lys540Thr
XM_005274603.2:c.1499A>C	XP_005274660.1:p.Lys500Thr
XM_005274604.2:c.1478A>C	XP_005274661.1:p.Lys493Thr
XM_005274606.2:c.1454A>C	XP_005274663.1:p.Lys485Thr
XM_005274607.3:c.1178A>C	XP_005274664.1:p.Lys393Thr
XM_011545591.1:c.1619A>C	XP_011543893.1:p.Lys540Thr
XM_011545592.1:c.1406A>C	XP_011543894.1:p.Lys469Thr
XM_011545593.1:c.1619A>C	XP_011543895.1:p.Lys540Thr
XM_011545594.1:c.1277A>C	XP_011543896.1:p.Lys426Thr
XM_011545595.1:c.1277A>C	XP_011543897.1:p.Lys426Thr
XM_011545596.1:c.1619A>C	XP_011543898.1:p.Lys540Thr
XM_011545597.1:c.1178A>C	XP_011543899.1:p.Lys393Thr
XM_011545598.1:c.323A>C	XP_011543900.1:p.Lys108Thr
XR_247288.2:n.1958A>C
NM_001330209.1:c.1478A>C	NP_001317138.1:p.Lys493Thr
NM_001330210.1:c.1178A>C	NP_001317139.1:p.Lys393Thr
XM_005274606.4:c.1454A>C	XP_005274663.1:p.Lys485Thr
XM_011545592.3:c.1406A>C	XP_011543894.1:p.Lys469Thr
XM_011545594.3:c.1277A>C	XP_011543896.1:p.Lys426Thr
XM_011545597.2:c.1178A>C	XP_011543899.1:p.Lys393Thr
XM_017029909.1:c.1178A>C	XP_016885398.1:p.Lys393Thr
XM_017029911.1:c.656A>C	XP_016885400.1:p.Lys219Thr
XM_024452468.1:c.323A>C	XP_024308236.1:p.Lys108Thr
XM_024452469.1:c.323A>C	XP_024308237.1:p.Lys108Thr
XM_024452470.1:c.323A>C	XP_024308238.1:p.Lys108Thr
XM_024452471.1:c.323A>C	XP_024308239.1:p.Lys108Thr
NM_003611.3:c.1598A>C MANE Select	NP_003602.1:p.Lys533Thr
NM_001330209.2:c.1478A>C	NP_001317138.1:p.Lys493Thr
NM_001330210.2:c.1178A>C	NP_001317139.1:p.Lys393Thr