Canonical Allele Identifier: CA10351928

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760538G>A , CM000685.2:g.13760538G>A	GRCh38
NC_000023.10:g.13778657G>A , CM000685.1:g.13778657G>A	GRCh37
NC_000023.9:g.13688578G>A	NCBI36
NG_008872.1:g.30826G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2078G>A MANE Select	NP_003602.1:p.Gly693Glu
ENST00000340096.11:c.2078G>A MANE Select	ENSP00000344314.6:p.Gly693Glu
NM_001330209.1:c.1958G>A	NP_001317138.1:p.Gly653Glu
NM_001330209.2:c.1958G>A	NP_001317138.1:p.Gly653Glu
NM_001330210.1:c.1658G>A	NP_001317139.1:p.Gly553Glu
NM_001330210.2:c.1658G>A	NP_001317139.1:p.Gly553Glu
NM_003611.2:c.2078G>A	NP_003602.1:p.Gly693Glu
ENST00000340096.10:c.2078G>A	ENSP00000344314.6:p.Gly693Glu
ENST00000380550.6:c.1958G>A	ENSP00000369923.3:p.Gly653Glu
ENST00000380567.5:c.1658G>A	ENSP00000369941.1:p.Gly553Glu
ENST00000380567.6:c.*1771G>A	ENSP00000369941.2:n.*1771G>A
ENST00000398395.7:c.*418G>A	ENSP00000381432.4:n.*418G>A
ENST00000398395.8:c.*1539G>A	ENSP00000381432.5:n.*1539G>A
ENST00000464463.6:n.3907G>A
ENST00000490265.5:n.3053G>A
ENST00000490265.6:n.2607G>A
ENST00000682237.1:c.*1638G>A	ENSP00000507121.1:n.*1638G>A
ENST00000682562.1:c.*3480G>A	ENSP00000507874.1:n.*3480G>A
ENST00000682953.1:c.*2805G>A	ENSP00000507878.1:n.*2805G>A
ENST00000683055.1:c.*3059G>A	ENSP00000508191.1:n.*3059G>A
ENST00000683284.1:c.*2309G>A	ENSP00000507837.1:n.*2309G>A
ENST00000683427.1:c.*735G>A	ENSP00000507290.1:n.*735G>A
ENST00000683454.1:n.2092G>A
ENST00000683637.1:n.3187G>A
ENST00000683655.1:c.*2292G>A	ENSP00000506770.1:n.*2292G>A
ENST00000683713.1:c.*2309G>A	ENSP00000507797.1:n.*2309G>A
ENST00000684577.1:c.*1775G>A	ENSP00000507871.1:n.*1775G>A
XM_005274599.2:c.2099G>A	XP_005274656.1:p.Gly700Glu
XM_005274602.2:c.2099G>A	XP_005274659.1:p.Gly700Glu
XM_005274603.2:c.1979G>A	XP_005274660.1:p.Gly660Glu
XM_005274604.2:c.1958G>A	XP_005274661.1:p.Gly653Glu
XM_005274606.2:c.1934G>A	XP_005274663.1:p.Gly645Glu
XM_005274606.4:c.1934G>A	XP_005274663.1:p.Gly645Glu
XM_005274607.3:c.1658G>A	XP_005274664.1:p.Gly553Glu
XM_011545591.1:c.2099G>A	XP_011543893.1:p.Gly700Glu
XM_011545592.1:c.1886G>A	XP_011543894.1:p.Gly629Glu
XM_011545592.3:c.1886G>A	XP_011543894.1:p.Gly629Glu
XM_011545593.1:c.2099G>A	XP_011543895.1:p.Gly700Glu
XM_011545594.1:c.1757G>A	XP_011543896.1:p.Gly586Glu
XM_011545594.3:c.1757G>A	XP_011543896.1:p.Gly586Glu
XM_011545595.1:c.1757G>A	XP_011543897.1:p.Gly586Glu
XM_011545596.1:c.2099G>A	XP_011543898.1:p.Gly700Glu
XM_011545597.1:c.1658G>A	XP_011543899.1:p.Gly553Glu
XM_011545597.2:c.1658G>A	XP_011543899.1:p.Gly553Glu
XM_011545598.1:c.803G>A	XP_011543900.1:p.Gly268Glu
XM_017029909.1:c.1658G>A	XP_016885398.1:p.Gly553Glu
XM_017029911.1:c.1136G>A	XP_016885400.1:p.Gly379Glu
XM_024452468.1:c.803G>A	XP_024308236.1:p.Gly268Glu
XM_024452469.1:c.803G>A	XP_024308237.1:p.Gly268Glu
XM_024452470.1:c.803G>A	XP_024308238.1:p.Gly268Glu
XM_024452471.1:c.803G>A	XP_024308239.1:p.Gly268Glu
XR_247288.2:n.2438G>A