Canonical Allele Identifier: CA412339937

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13751328G>A , CM000685.2:g.13751328G>A	GRCh38
NC_000023.10:g.13769447G>A , CM000685.1:g.13769447G>A	GRCh37
NC_000023.9:g.13679368G>A	NCBI36
NG_008872.1:g.21616G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1015G>A MANE Select	NP_003602.1:p.Glu339Lys
ENST00000340096.11:c.1015G>A MANE Select	ENSP00000344314.6:p.Glu339Lys
NM_001330209.1:c.935+1795G>A	NP_001317138.1:n.935+1795G>A
NM_001330209.2:c.935+1795G>A	NP_001317138.1:n.935+1795G>A
NM_001330210.1:c.595G>A	NP_001317139.1:p.Glu199Lys
NM_001330210.2:c.595G>A	NP_001317139.1:p.Glu199Lys
NM_003611.2:c.1015G>A	NP_003602.1:p.Glu339Lys
ENST00000340096.10:c.1015G>A	ENSP00000344314.6:p.Glu339Lys
ENST00000380550.6:c.935+1795G>A	ENSP00000369923.3:n.935+1795G>A
ENST00000380567.5:c.595G>A	ENSP00000369941.1:p.Glu199Lys
ENST00000380567.6:c.*708G>A	ENSP00000369941.2:n.*708G>A
ENST00000398395.7:c.524+1795G>A	ENSP00000381432.4:n.524+1795G>A
ENST00000398395.8:c.*628+1795G>A	ENSP00000381432.5:n.*628+1795G>A
ENST00000464463.6:n.1218+1795G>A
ENST00000490265.5:n.1326G>A
ENST00000490265.6:n.880G>A
ENST00000682237.1:c.1015G>A	ENSP00000507121.1:p.Glu339Lys
ENST00000682562.1:c.*708G>A	ENSP00000507874.1:n.*708G>A
ENST00000682953.1:c.*1078G>A	ENSP00000507878.1:n.*1078G>A
ENST00000683055.1:c.830+1795G>A	ENSP00000508191.1:n.830+1795G>A
ENST00000683065.1:n.344+1795G>A
ENST00000683284.1:c.*582G>A	ENSP00000507837.1:n.*582G>A
ENST00000683427.1:c.935+1795G>A	ENSP00000507290.1:n.935+1795G>A
ENST00000683454.1:n.1029G>A
ENST00000683637.1:n.1460G>A
ENST00000683655.1:c.*565G>A	ENSP00000506770.1:n.*565G>A
ENST00000683713.1:c.*582G>A	ENSP00000507797.1:n.*582G>A
ENST00000684577.1:c.*708G>A	ENSP00000507871.1:n.*708G>A
XM_005274599.2:c.1036G>A	XP_005274656.1:p.Glu346Lys
XM_005274602.2:c.1036G>A	XP_005274659.1:p.Glu346Lys
XM_005274603.2:c.956+1795G>A	XP_005274660.1:n.956+1795G>A
XM_005274604.2:c.935+1795G>A	XP_005274661.1:n.935+1795G>A
XM_005274606.2:c.871G>A	XP_005274663.1:p.Glu291Lys
XM_005274606.4:c.871G>A	XP_005274663.1:p.Glu291Lys
XM_005274607.3:c.595G>A	XP_005274664.1:p.Glu199Lys
XM_011545591.1:c.1036G>A	XP_011543893.1:p.Glu346Lys
XM_011545592.1:c.823G>A	XP_011543894.1:p.Glu275Lys
XM_011545592.3:c.823G>A	XP_011543894.1:p.Glu275Lys
XM_011545593.1:c.1036G>A	XP_011543895.1:p.Glu346Lys
XM_011545594.1:c.694G>A	XP_011543896.1:p.Glu232Lys
XM_011545594.3:c.694G>A	XP_011543896.1:p.Glu232Lys
XM_011545595.1:c.694G>A	XP_011543897.1:p.Glu232Lys
XM_011545596.1:c.1036G>A	XP_011543898.1:p.Glu346Lys
XM_011545597.1:c.595G>A	XP_011543899.1:p.Glu199Lys
XM_011545597.2:c.595G>A	XP_011543899.1:p.Glu199Lys
XM_011545598.1:c.-95G>A	XP_011543900.1:n.-95G>A
XM_017029909.1:c.595G>A	XP_016885398.1:p.Glu199Lys
XM_017029911.1:c.-55G>A	XP_016885400.1:n.-55G>A
XM_024452468.1:c.-925G>A	XP_024308236.1:n.-925G>A
XM_024452469.1:c.-925G>A	XP_024308237.1:n.-925G>A
XM_024452470.1:c.-925G>A	XP_024308238.1:n.-925G>A
XM_024452471.1:c.-925G>A	XP_024308239.1:n.-925G>A
XR_247288.2:n.1375G>A