Canonical Allele Identifier: CA412315723

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13769096C>A , CM000685.2:g.13769096C>A	GRCh38
NC_000023.10:g.13787215C>A , CM000685.1:g.13787215C>A	GRCh37
NC_000023.9:g.13697136C>A	NCBI36
NG_008872.1:g.39384C>A
NG_011988.1:g.174617G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.3027C>A MANE Select	NP_003602.1:p.Asp1009Glu
ENST00000340096.11:c.3027C>A MANE Select	ENSP00000344314.6:p.Asp1009Glu
NM_001330209.1:c.2907C>A	NP_001317138.1:p.Asp969Glu
NM_001330209.2:c.2907C>A	NP_001317138.1:p.Asp969Glu
NM_001330210.1:c.2607C>A	NP_001317139.1:p.Asp869Glu
NM_001330210.2:c.2607C>A	NP_001317139.1:p.Asp869Glu
NM_003611.2:c.3027C>A	NP_003602.1:p.Asp1009Glu
ENST00000340096.10:c.3027C>A	ENSP00000344314.6:p.Asp1009Glu
ENST00000380550.6:c.2907C>A	ENSP00000369923.3:p.Asp969Glu
ENST00000380567.5:c.2607C>A	ENSP00000369941.1:p.Asp869Glu
ENST00000380567.6:c.*2720C>A	ENSP00000369941.2:n.*2720C>A
ENST00000398395.7:c.*1367C>A	ENSP00000381432.4:n.*1367C>A
ENST00000398395.8:c.*2488C>A	ENSP00000381432.5:n.*2488C>A
ENST00000464463.5:n.737C>A
ENST00000464463.6:n.4856C>A
ENST00000474705.1:n.419C>A
ENST00000490265.5:n.4002C>A
ENST00000490265.6:n.3556C>A
ENST00000682237.1:c.*2587C>A	ENSP00000507121.1:n.*2587C>A
ENST00000682562.1:c.*4318C>A	ENSP00000507874.1:n.*4318C>A
ENST00000682953.1:c.*3643C>A	ENSP00000507878.1:n.*3643C>A
ENST00000683055.1:c.*5439C>A	ENSP00000508191.1:n.*5439C>A
ENST00000683284.1:c.*3258C>A	ENSP00000507837.1:n.*3258C>A
ENST00000683427.1:c.*2453C>A	ENSP00000507290.1:n.*2453C>A
ENST00000683454.1:n.3010+311C>A
ENST00000683713.1:c.*3258C>A	ENSP00000507797.1:n.*3258C>A
ENST00000684577.1:c.*2613C>A	ENSP00000507871.1:n.*2613C>A
XM_005274599.2:c.3048C>A	XP_005274656.1:p.Asp1016Glu
XM_005274602.2:c.2937C>A	XP_005274659.1:p.Asp979Glu
XM_005274603.2:c.2928C>A	XP_005274660.1:p.Asp976Glu
XM_005274604.2:c.2907C>A	XP_005274661.1:p.Asp969Glu
XM_005274606.2:c.2883C>A	XP_005274663.1:p.Asp961Glu
XM_005274606.4:c.2883C>A	XP_005274663.1:p.Asp961Glu
XM_005274607.3:c.2607C>A	XP_005274664.1:p.Asp869Glu
XM_011545591.1:c.3017+311C>A	XP_011543893.1:n.3017+311C>A
XM_011545592.1:c.2835C>A	XP_011543894.1:p.Asp945Glu
XM_011545592.3:c.2835C>A	XP_011543894.1:p.Asp945Glu
XM_011545594.1:c.2706C>A	XP_011543896.1:p.Asp902Glu
XM_011545594.3:c.2706C>A	XP_011543896.1:p.Asp902Glu
XM_011545595.1:c.2706C>A	XP_011543897.1:p.Asp902Glu
XM_011545597.1:c.2496C>A	XP_011543899.1:p.Asp832Glu
XM_011545597.2:c.2496C>A	XP_011543899.1:p.Asp832Glu
XM_011545598.1:c.1752C>A	XP_011543900.1:p.Asp584Glu
XM_017029909.1:c.2607C>A	XP_016885398.1:p.Asp869Glu
XM_017029911.1:c.2085C>A	XP_016885400.1:p.Asp695Glu
XM_024452468.1:c.1752C>A	XP_024308236.1:p.Asp584Glu
XM_024452469.1:c.1752C>A	XP_024308237.1:p.Asp584Glu
XM_024452470.1:c.1752C>A	XP_024308238.1:p.Asp584Glu
XM_024452471.1:c.1641C>A	XP_024308239.1:p.Asp547Glu
XR_247288.2:n.3229C>A