Canonical Allele Identifier: CA10352061

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767196G>A , CM000685.2:g.13767196G>A	GRCh38
NC_000023.10:g.13785315G>A , CM000685.1:g.13785315G>A	GRCh37
NC_000023.9:g.13695236G>A	NCBI36
NG_008872.1:g.37484G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2669G>A MANE Select	NP_003602.1:p.Arg890Gln
ENST00000340096.11:c.2669G>A MANE Select	ENSP00000344314.6:p.Arg890Gln
NM_001330209.1:c.2549G>A	NP_001317138.1:p.Arg850Gln
NM_001330209.2:c.2549G>A	NP_001317138.1:p.Arg850Gln
NM_001330210.1:c.2249G>A	NP_001317139.1:p.Arg750Gln
NM_001330210.2:c.2249G>A	NP_001317139.1:p.Arg750Gln
NM_003611.2:c.2669G>A	NP_003602.1:p.Arg890Gln
ENST00000340096.10:c.2669G>A	ENSP00000344314.6:p.Arg890Gln
ENST00000380550.6:c.2549G>A	ENSP00000369923.3:p.Arg850Gln
ENST00000380567.5:c.2249G>A	ENSP00000369941.1:p.Arg750Gln
ENST00000380567.6:c.*2362G>A	ENSP00000369941.2:n.*2362G>A
ENST00000398395.7:c.*1009G>A	ENSP00000381432.4:n.*1009G>A
ENST00000398395.8:c.*2130G>A	ENSP00000381432.5:n.*2130G>A
ENST00000464463.5:n.379G>A
ENST00000464463.6:n.4498G>A
ENST00000490265.5:n.3644G>A
ENST00000490265.6:n.3198G>A
ENST00000682237.1:c.*2229G>A	ENSP00000507121.1:n.*2229G>A
ENST00000682562.1:c.*3960G>A	ENSP00000507874.1:n.*3960G>A
ENST00000682953.1:c.*3285G>A	ENSP00000507878.1:n.*3285G>A
ENST00000683055.1:c.*3539G>A	ENSP00000508191.1:n.*3539G>A
ENST00000683284.1:c.*2900G>A	ENSP00000507837.1:n.*2900G>A
ENST00000683427.1:c.*1326G>A	ENSP00000507290.1:n.*1326G>A
ENST00000683454.1:n.2683G>A
ENST00000683637.1:n.3778G>A
ENST00000683655.1:c.*2883G>A	ENSP00000506770.1:n.*2883G>A
ENST00000683713.1:c.*2900G>A	ENSP00000507797.1:n.*2900G>A
ENST00000684577.1:c.*2255G>A	ENSP00000507871.1:n.*2255G>A
XM_005274599.2:c.2690G>A	XP_005274656.1:p.Arg897Gln
XM_005274602.2:c.2579G>A	XP_005274659.1:p.Arg860Gln
XM_005274603.2:c.2570G>A	XP_005274660.1:p.Arg857Gln
XM_005274604.2:c.2549G>A	XP_005274661.1:p.Arg850Gln
XM_005274606.2:c.2525G>A	XP_005274663.1:p.Arg842Gln
XM_005274606.4:c.2525G>A	XP_005274663.1:p.Arg842Gln
XM_005274607.3:c.2249G>A	XP_005274664.1:p.Arg750Gln
XM_011545591.1:c.2690G>A	XP_011543893.1:p.Arg897Gln
XM_011545592.1:c.2477G>A	XP_011543894.1:p.Arg826Gln
XM_011545592.3:c.2477G>A	XP_011543894.1:p.Arg826Gln
XM_011545593.1:c.2690G>A	XP_011543895.1:p.Arg897Gln
XM_011545594.1:c.2348G>A	XP_011543896.1:p.Arg783Gln
XM_011545594.3:c.2348G>A	XP_011543896.1:p.Arg783Gln
XM_011545595.1:c.2348G>A	XP_011543897.1:p.Arg783Gln
XM_011545596.1:c.2510-858G>A	XP_011543898.1:n.2510-858G>A
XM_011545597.1:c.2138G>A	XP_011543899.1:p.Arg713Gln
XM_011545597.2:c.2138G>A	XP_011543899.1:p.Arg713Gln
XM_011545598.1:c.1394G>A	XP_011543900.1:p.Arg465Gln
XM_017029909.1:c.2249G>A	XP_016885398.1:p.Arg750Gln
XM_017029911.1:c.1727G>A	XP_016885400.1:p.Arg576Gln
XM_024452468.1:c.1394G>A	XP_024308236.1:p.Arg465Gln
XM_024452469.1:c.1394G>A	XP_024308237.1:p.Arg465Gln
XM_024452470.1:c.1394G>A	XP_024308238.1:p.Arg465Gln
XM_024452471.1:c.1283G>A	XP_024308239.1:p.Arg428Gln
XR_247288.2:n.2960-858G>A