Canonical Allele Identifier: CA10351776

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13755211A>G , CM000685.2:g.13755211A>G	GRCh38
NC_000023.10:g.13773330A>G , CM000685.1:g.13773330A>G	GRCh37
NC_000023.9:g.13683251A>G	NCBI36
NG_008872.1:g.25499A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1190A>G MANE Select	NP_003602.1:p.Asn397Ser
ENST00000340096.11:c.1190A>G MANE Select	ENSP00000344314.6:p.Asn397Ser
NM_001330209.1:c.1070A>G	NP_001317138.1:p.Asn357Ser
NM_001330209.2:c.1070A>G	NP_001317138.1:p.Asn357Ser
NM_001330210.1:c.770A>G	NP_001317139.1:p.Asn257Ser
NM_001330210.2:c.770A>G	NP_001317139.1:p.Asn257Ser
NM_003611.2:c.1190A>G	NP_003602.1:p.Asn397Ser
ENST00000340096.10:c.1190A>G	ENSP00000344314.6:p.Asn397Ser
ENST00000380550.6:c.1070A>G	ENSP00000369923.3:p.Asn357Ser
ENST00000380567.5:c.770A>G	ENSP00000369941.1:p.Asn257Ser
ENST00000380567.6:c.*883A>G	ENSP00000369941.2:n.*883A>G
ENST00000398395.7:c.659A>G	ENSP00000381432.4:p.Asn220Ser
ENST00000398395.8:c.*763A>G	ENSP00000381432.5:n.*763A>G
ENST00000464463.6:n.1353A>G
ENST00000490265.5:n.2165A>G
ENST00000490265.6:n.1719A>G
ENST00000682237.1:c.*750A>G	ENSP00000507121.1:n.*750A>G
ENST00000682562.1:c.*2592A>G	ENSP00000507874.1:n.*2592A>G
ENST00000682953.1:c.*1917A>G	ENSP00000507878.1:n.*1917A>G
ENST00000683055.1:c.831-1367A>G	ENSP00000508191.1:n.831-1367A>G
ENST00000683284.1:c.*1421A>G	ENSP00000507837.1:n.*1421A>G
ENST00000683427.1:c.936-1367A>G	ENSP00000507290.1:n.936-1367A>G
ENST00000683454.1:n.1204A>G
ENST00000683637.1:n.2299A>G
ENST00000683655.1:c.*1404A>G	ENSP00000506770.1:n.*1404A>G
ENST00000683713.1:c.*1421A>G	ENSP00000507797.1:n.*1421A>G
ENST00000684577.1:c.*883A>G	ENSP00000507871.1:n.*883A>G
XM_005274599.2:c.1211A>G	XP_005274656.1:p.Asn404Ser
XM_005274602.2:c.1211A>G	XP_005274659.1:p.Asn404Ser
XM_005274603.2:c.1091A>G	XP_005274660.1:p.Asn364Ser
XM_005274604.2:c.1070A>G	XP_005274661.1:p.Asn357Ser
XM_005274606.2:c.1046A>G	XP_005274663.1:p.Asn349Ser
XM_005274606.4:c.1046A>G	XP_005274663.1:p.Asn349Ser
XM_005274607.3:c.770A>G	XP_005274664.1:p.Asn257Ser
XM_011545591.1:c.1211A>G	XP_011543893.1:p.Asn404Ser
XM_011545592.1:c.998A>G	XP_011543894.1:p.Asn333Ser
XM_011545592.3:c.998A>G	XP_011543894.1:p.Asn333Ser
XM_011545593.1:c.1211A>G	XP_011543895.1:p.Asn404Ser
XM_011545594.1:c.869A>G	XP_011543896.1:p.Asn290Ser
XM_011545594.3:c.869A>G	XP_011543896.1:p.Asn290Ser
XM_011545595.1:c.869A>G	XP_011543897.1:p.Asn290Ser
XM_011545596.1:c.1211A>G	XP_011543898.1:p.Asn404Ser
XM_011545597.1:c.770A>G	XP_011543899.1:p.Asn257Ser
XM_011545597.2:c.770A>G	XP_011543899.1:p.Asn257Ser
XM_011545598.1:c.-54-1367A>G	XP_011543900.1:n.-54-1367A>G
XM_017029909.1:c.770A>G	XP_016885398.1:p.Asn257Ser
XM_017029911.1:c.248A>G	XP_016885400.1:p.Asn83Ser
XM_024452468.1:c.-86A>G	XP_024308236.1:n.-86A>G
XM_024452469.1:c.-86A>G	XP_024308237.1:n.-86A>G
XM_024452470.1:c.-86A>G	XP_024308238.1:n.-86A>G
XM_024452471.1:c.-86A>G	XP_024308239.1:n.-86A>G
XR_247288.2:n.1550A>G