Canonical Allele Identifier: CA10351979

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761129A>G , CM000685.2:g.13761129A>G	GRCh38
NC_000023.10:g.13779248A>G , CM000685.1:g.13779248A>G	GRCh37
NC_000023.9:g.13689169A>G	NCBI36
NG_008872.1:g.31417A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2305A>G MANE Select	NP_003602.1:p.Arg769Gly
ENST00000340096.11:c.2305A>G MANE Select	ENSP00000344314.6:p.Arg769Gly
NM_001330209.1:c.2185A>G	NP_001317138.1:p.Arg729Gly
NM_001330209.2:c.2185A>G	NP_001317138.1:p.Arg729Gly
NM_001330210.1:c.1885A>G	NP_001317139.1:p.Arg629Gly
NM_001330210.2:c.1885A>G	NP_001317139.1:p.Arg629Gly
NM_003611.2:c.2305A>G	NP_003602.1:p.Arg769Gly
ENST00000340096.10:c.2305A>G	ENSP00000344314.6:p.Arg769Gly
ENST00000380550.6:c.2185A>G	ENSP00000369923.3:p.Arg729Gly
ENST00000380567.5:c.1885A>G	ENSP00000369941.1:p.Arg629Gly
ENST00000380567.6:c.*1998A>G	ENSP00000369941.2:n.*1998A>G
ENST00000398395.7:c.*645A>G	ENSP00000381432.4:n.*645A>G
ENST00000398395.8:c.*1766A>G	ENSP00000381432.5:n.*1766A>G
ENST00000464463.5:n.126A>G
ENST00000464463.6:n.4134A>G
ENST00000490265.5:n.3280A>G
ENST00000490265.6:n.2834A>G
ENST00000682237.1:c.*1865A>G	ENSP00000507121.1:n.*1865A>G
ENST00000682562.1:c.*3707A>G	ENSP00000507874.1:n.*3707A>G
ENST00000682953.1:c.*3032A>G	ENSP00000507878.1:n.*3032A>G
ENST00000683055.1:c.*3286A>G	ENSP00000508191.1:n.*3286A>G
ENST00000683284.1:c.*2536A>G	ENSP00000507837.1:n.*2536A>G
ENST00000683427.1:c.*962A>G	ENSP00000507290.1:n.*962A>G
ENST00000683454.1:n.2319A>G
ENST00000683637.1:n.3414A>G
ENST00000683655.1:c.*2519A>G	ENSP00000506770.1:n.*2519A>G
ENST00000683713.1:c.*2536A>G	ENSP00000507797.1:n.*2536A>G
ENST00000684577.1:c.*2002A>G	ENSP00000507871.1:n.*2002A>G
XM_005274599.2:c.2326A>G	XP_005274656.1:p.Arg776Gly
XM_005274602.2:c.2326A>G	XP_005274659.1:p.Arg776Gly
XM_005274603.2:c.2206A>G	XP_005274660.1:p.Arg736Gly
XM_005274604.2:c.2185A>G	XP_005274661.1:p.Arg729Gly
XM_005274606.2:c.2161A>G	XP_005274663.1:p.Arg721Gly
XM_005274606.4:c.2161A>G	XP_005274663.1:p.Arg721Gly
XM_005274607.3:c.1885A>G	XP_005274664.1:p.Arg629Gly
XM_011545591.1:c.2326A>G	XP_011543893.1:p.Arg776Gly
XM_011545592.1:c.2113A>G	XP_011543894.1:p.Arg705Gly
XM_011545592.3:c.2113A>G	XP_011543894.1:p.Arg705Gly
XM_011545593.1:c.2326A>G	XP_011543895.1:p.Arg776Gly
XM_011545594.1:c.1984A>G	XP_011543896.1:p.Arg662Gly
XM_011545594.3:c.1984A>G	XP_011543896.1:p.Arg662Gly
XM_011545595.1:c.1984A>G	XP_011543897.1:p.Arg662Gly
XM_011545596.1:c.2326A>G	XP_011543898.1:p.Arg776Gly
XM_011545597.1:c.1885A>G	XP_011543899.1:p.Arg629Gly
XM_011545597.2:c.1885A>G	XP_011543899.1:p.Arg629Gly
XM_011545598.1:c.1030A>G	XP_011543900.1:p.Arg344Gly
XM_017029909.1:c.1885A>G	XP_016885398.1:p.Arg629Gly
XM_017029911.1:c.1363A>G	XP_016885400.1:p.Arg455Gly
XM_024452468.1:c.1030A>G	XP_024308236.1:p.Arg344Gly
XM_024452469.1:c.1030A>G	XP_024308237.1:p.Arg344Gly
XM_024452470.1:c.1030A>G	XP_024308238.1:p.Arg344Gly
XM_024452471.1:c.1030A>G	XP_024308239.1:p.Arg344Gly
XR_247288.2:n.2665A>G