Canonical Allele Identifier: CA412333612

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13738857G>C , CM000685.2:g.13738857G>C	GRCh38
NC_000023.10:g.13756976G>C , CM000685.1:g.13756976G>C	GRCh37
NC_000023.9:g.13666897G>C	NCBI36
NG_008872.1:g.9145G>C
NG_011555.1:g.767C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.324G>C MANE Select	NP_003602.1:p.Met108Ile
ENST00000340096.11:c.324G>C MANE Select	ENSP00000344314.6:p.Met108Ile
NM_001330209.1:c.324G>C	NP_001317138.1:p.Met108Ile
NM_001330209.2:c.324G>C	NP_001317138.1:p.Met108Ile
NM_001330210.1:c.-222G>C	NP_001317139.1:n.-222G>C
NM_001330210.2:c.-222G>C	NP_001317139.1:n.-222G>C
NM_003611.2:c.324G>C	NP_003602.1:p.Met108Ile
ENST00000340096.10:c.324G>C	ENSP00000344314.6:p.Met108Ile
ENST00000380550.6:c.324G>C	ENSP00000369923.3:p.Met108Ile
ENST00000380567.5:c.-222G>C	ENSP00000369941.1:n.-222G>C
ENST00000380567.6:c.324G>C	ENSP00000369941.2:p.Met108Ile
ENST00000398395.7:c.-211G>C	ENSP00000381432.4:n.-211G>C
ENST00000398395.8:c.324G>C	ENSP00000381432.5:p.Met108Ile
ENST00000464463.6:n.607G>C
ENST00000466534.1:n.164G>C
ENST00000490265.5:n.635G>C
ENST00000490265.6:n.186G>C
ENST00000682237.1:c.324G>C	ENSP00000507121.1:p.Met108Ile
ENST00000682562.1:c.324G>C	ENSP00000507874.1:p.Met108Ile
ENST00000682953.1:c.*387G>C	ENSP00000507878.1:n.*387G>C
ENST00000683055.1:c.324G>C	ENSP00000508191.1:p.Met108Ile
ENST00000683284.1:c.146G>C	ENSP00000507837.1:p.Cys49Ser
ENST00000683427.1:c.324G>C	ENSP00000507290.1:p.Met108Ile
ENST00000683454.1:n.213G>C
ENST00000683655.1:c.324G>C	ENSP00000506770.1:p.Met108Ile
ENST00000683713.1:c.312+2179G>C	ENSP00000507797.1:n.312+2179G>C
ENST00000684401.1:n.715G>C
ENST00000684577.1:c.324G>C	ENSP00000507871.1:p.Met108Ile
XM_005274599.2:c.345G>C	XP_005274656.1:p.Met115Ile
XM_005274602.2:c.345G>C	XP_005274659.1:p.Met115Ile
XM_005274603.2:c.345G>C	XP_005274660.1:p.Met115Ile
XM_005274604.2:c.324G>C	XP_005274661.1:p.Met108Ile
XM_005274606.2:c.180G>C	XP_005274663.1:p.Met60Ile
XM_005274606.4:c.180G>C	XP_005274663.1:p.Met60Ile
XM_011545591.1:c.345G>C	XP_011543893.1:p.Met115Ile
XM_011545592.1:c.132G>C	XP_011543894.1:p.Met44Ile
XM_011545592.3:c.132G>C	XP_011543894.1:p.Met44Ile
XM_011545593.1:c.345G>C	XP_011543895.1:p.Met115Ile
XM_011545594.1:c.3G>C	XP_011543896.1:p.Met1Ile
XM_011545594.3:c.3G>C	XP_011543896.1:p.Met1Ile
XM_011545595.1:c.3G>C	XP_011543897.1:p.Met1Ile
XM_011545596.1:c.345G>C	XP_011543898.1:p.Met115Ile
XM_011545597.1:c.-222G>C	XP_011543899.1:n.-222G>C
XM_011545597.2:c.-222G>C	XP_011543899.1:n.-222G>C
XM_017029909.1:c.-222G>C	XP_016885398.1:n.-222G>C
XM_024452468.1:c.-1616G>C	XP_024308236.1:n.-1616G>C
XM_024452469.1:c.-1616G>C	XP_024308237.1:n.-1616G>C
XM_024452470.1:c.-1616G>C	XP_024308238.1:n.-1616G>C
XM_024452471.1:c.-1616G>C	XP_024308239.1:n.-1616G>C
XR_247288.2:n.684G>C