Canonical Allele Identifier: CA10351912

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760421G>A , CM000685.2:g.13760421G>A	GRCh38
NC_000023.10:g.13778540G>A , CM000685.1:g.13778540G>A	GRCh37
NC_000023.9:g.13688461G>A	NCBI36
NG_008872.1:g.30709G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1961G>A MANE Select	NP_003602.1:p.Arg654Gln
ENST00000340096.11:c.1961G>A MANE Select	ENSP00000344314.6:p.Arg654Gln
NM_001330209.1:c.1841G>A	NP_001317138.1:p.Arg614Gln
NM_001330209.2:c.1841G>A	NP_001317138.1:p.Arg614Gln
NM_001330210.1:c.1541G>A	NP_001317139.1:p.Arg514Gln
NM_001330210.2:c.1541G>A	NP_001317139.1:p.Arg514Gln
NM_003611.2:c.1961G>A	NP_003602.1:p.Arg654Gln
ENST00000340096.10:c.1961G>A	ENSP00000344314.6:p.Arg654Gln
ENST00000380550.6:c.1841G>A	ENSP00000369923.3:p.Arg614Gln
ENST00000380567.5:c.1541G>A	ENSP00000369941.1:p.Arg514Gln
ENST00000380567.6:c.*1654G>A	ENSP00000369941.2:n.*1654G>A
ENST00000398395.7:c.*301G>A	ENSP00000381432.4:n.*301G>A
ENST00000398395.8:c.*1422G>A	ENSP00000381432.5:n.*1422G>A
ENST00000464463.6:n.3790G>A
ENST00000490265.5:n.2936G>A
ENST00000490265.6:n.2490G>A
ENST00000682237.1:c.*1521G>A	ENSP00000507121.1:n.*1521G>A
ENST00000682562.1:c.*3363G>A	ENSP00000507874.1:n.*3363G>A
ENST00000682953.1:c.*2688G>A	ENSP00000507878.1:n.*2688G>A
ENST00000683055.1:c.*2942G>A	ENSP00000508191.1:n.*2942G>A
ENST00000683284.1:c.*2192G>A	ENSP00000507837.1:n.*2192G>A
ENST00000683427.1:c.*618G>A	ENSP00000507290.1:n.*618G>A
ENST00000683454.1:n.1975G>A
ENST00000683637.1:n.3070G>A
ENST00000683655.1:c.*2175G>A	ENSP00000506770.1:n.*2175G>A
ENST00000683713.1:c.*2192G>A	ENSP00000507797.1:n.*2192G>A
ENST00000684577.1:c.*1658G>A	ENSP00000507871.1:n.*1658G>A
XM_005274599.2:c.1982G>A	XP_005274656.1:p.Arg661Gln
XM_005274602.2:c.1982G>A	XP_005274659.1:p.Arg661Gln
XM_005274603.2:c.1862G>A	XP_005274660.1:p.Arg621Gln
XM_005274604.2:c.1841G>A	XP_005274661.1:p.Arg614Gln
XM_005274606.2:c.1817G>A	XP_005274663.1:p.Arg606Gln
XM_005274606.4:c.1817G>A	XP_005274663.1:p.Arg606Gln
XM_005274607.3:c.1541G>A	XP_005274664.1:p.Arg514Gln
XM_011545591.1:c.1982G>A	XP_011543893.1:p.Arg661Gln
XM_011545592.1:c.1769G>A	XP_011543894.1:p.Arg590Gln
XM_011545592.3:c.1769G>A	XP_011543894.1:p.Arg590Gln
XM_011545593.1:c.1982G>A	XP_011543895.1:p.Arg661Gln
XM_011545594.1:c.1640G>A	XP_011543896.1:p.Arg547Gln
XM_011545594.3:c.1640G>A	XP_011543896.1:p.Arg547Gln
XM_011545595.1:c.1640G>A	XP_011543897.1:p.Arg547Gln
XM_011545596.1:c.1982G>A	XP_011543898.1:p.Arg661Gln
XM_011545597.1:c.1541G>A	XP_011543899.1:p.Arg514Gln
XM_011545597.2:c.1541G>A	XP_011543899.1:p.Arg514Gln
XM_011545598.1:c.686G>A	XP_011543900.1:p.Arg229Gln
XM_017029909.1:c.1541G>A	XP_016885398.1:p.Arg514Gln
XM_017029911.1:c.1019G>A	XP_016885400.1:p.Arg340Gln
XM_024452468.1:c.686G>A	XP_024308236.1:p.Arg229Gln
XM_024452469.1:c.686G>A	XP_024308237.1:p.Arg229Gln
XM_024452470.1:c.686G>A	XP_024308238.1:p.Arg229Gln
XM_024452471.1:c.686G>A	XP_024308239.1:p.Arg229Gln
XR_247288.2:n.2321G>A