Canonical Allele Identifier: CA412312920

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13768111G>T , CM000685.2:g.13768111G>T	GRCh38
NC_000023.10:g.13786230G>T , CM000685.1:g.13786230G>T	GRCh37
NC_000023.9:g.13696151G>T	NCBI36
NG_008872.1:g.38399G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2815G>T MANE Select	NP_003602.1:p.Glu939Ter
ENST00000340096.11:c.2815G>T MANE Select	ENSP00000344314.6:p.Glu939Ter
NM_001330209.1:c.2695G>T	NP_001317138.1:p.Glu899Ter
NM_001330209.2:c.2695G>T	NP_001317138.1:p.Glu899Ter
NM_001330210.1:c.2395G>T	NP_001317139.1:p.Glu799Ter
NM_001330210.2:c.2395G>T	NP_001317139.1:p.Glu799Ter
NM_003611.2:c.2815G>T	NP_003602.1:p.Glu939Ter
ENST00000340096.10:c.2815G>T	ENSP00000344314.6:p.Glu939Ter
ENST00000380550.6:c.2695G>T	ENSP00000369923.3:p.Glu899Ter
ENST00000380567.5:c.2395G>T	ENSP00000369941.1:p.Glu799Ter
ENST00000380567.6:c.*2508G>T	ENSP00000369941.2:n.*2508G>T
ENST00000398395.7:c.*1155G>T	ENSP00000381432.4:n.*1155G>T
ENST00000398395.8:c.*2276G>T	ENSP00000381432.5:n.*2276G>T
ENST00000464463.5:n.525G>T
ENST00000464463.6:n.4644G>T
ENST00000474705.1:n.207G>T
ENST00000490265.5:n.3790G>T
ENST00000490265.6:n.3344G>T
ENST00000682237.1:c.*2375G>T	ENSP00000507121.1:n.*2375G>T
ENST00000682562.1:c.*4106G>T	ENSP00000507874.1:n.*4106G>T
ENST00000682953.1:c.*3431G>T	ENSP00000507878.1:n.*3431G>T
ENST00000683055.1:c.*4454G>T	ENSP00000508191.1:n.*4454G>T
ENST00000683284.1:c.*3046G>T	ENSP00000507837.1:n.*3046G>T
ENST00000683427.1:c.*2241G>T	ENSP00000507290.1:n.*2241G>T
ENST00000683454.1:n.2829G>T
ENST00000683637.1:n.3924G>T
ENST00000683655.1:c.*3029G>T	ENSP00000506770.1:n.*3029G>T
ENST00000683713.1:c.*3046G>T	ENSP00000507797.1:n.*3046G>T
ENST00000684577.1:c.*2401G>T	ENSP00000507871.1:n.*2401G>T
XM_005274599.2:c.2836G>T	XP_005274656.1:p.Glu946Ter
XM_005274602.2:c.2725G>T	XP_005274659.1:p.Glu909Ter
XM_005274603.2:c.2716G>T	XP_005274660.1:p.Glu906Ter
XM_005274604.2:c.2695G>T	XP_005274661.1:p.Glu899Ter
XM_005274606.2:c.2671G>T	XP_005274663.1:p.Glu891Ter
XM_005274606.4:c.2671G>T	XP_005274663.1:p.Glu891Ter
XM_005274607.3:c.2395G>T	XP_005274664.1:p.Glu799Ter
XM_011545591.1:c.2836G>T	XP_011543893.1:p.Glu946Ter
XM_011545592.1:c.2623G>T	XP_011543894.1:p.Glu875Ter
XM_011545592.3:c.2623G>T	XP_011543894.1:p.Glu875Ter
XM_011545593.1:c.*92G>T	XP_011543895.1:n.*92G>T
XM_011545594.1:c.2494G>T	XP_011543896.1:p.Glu832Ter
XM_011545594.3:c.2494G>T	XP_011543896.1:p.Glu832Ter
XM_011545595.1:c.2494G>T	XP_011543897.1:p.Glu832Ter
XM_011545596.1:c.*56G>T	XP_011543898.1:n.*56G>T
XM_011545597.1:c.2284G>T	XP_011543899.1:p.Glu762Ter
XM_011545597.2:c.2284G>T	XP_011543899.1:p.Glu762Ter
XM_011545598.1:c.1540G>T	XP_011543900.1:p.Glu514Ter
XM_017029909.1:c.2395G>T	XP_016885398.1:p.Glu799Ter
XM_017029911.1:c.1873G>T	XP_016885400.1:p.Glu625Ter
XM_024452468.1:c.1540G>T	XP_024308236.1:p.Glu514Ter
XM_024452469.1:c.1540G>T	XP_024308237.1:p.Glu514Ter
XM_024452470.1:c.1540G>T	XP_024308238.1:p.Glu514Ter
XM_024452471.1:c.1429G>T	XP_024308239.1:p.Glu477Ter
XR_247288.2:n.3017G>T