Canonical Allele Identifier: CA412345143

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761212G>A , CM000685.2:g.13761212G>A	GRCh38
NC_000023.10:g.13779331G>A , CM000685.1:g.13779331G>A	GRCh37
NC_000023.9:g.13689252G>A	NCBI36
NG_008872.1:g.31500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2387+1G>A MANE Select	NP_003602.1:n.2387+1G>A
ENST00000340096.11:c.2387+1G>A MANE Select	ENSP00000344314.6:n.2387+1G>A
NM_001330209.1:c.2267+1G>A	NP_001317138.1:n.2267+1G>A
NM_001330209.2:c.2267+1G>A	NP_001317138.1:n.2267+1G>A
NM_001330210.1:c.1967+1G>A	NP_001317139.1:n.1967+1G>A
NM_001330210.2:c.1967+1G>A	NP_001317139.1:n.1967+1G>A
NM_003611.2:c.2387+1G>A	NP_003602.1:n.2387+1G>A
ENST00000340096.10:c.2387+1G>A	ENSP00000344314.6:n.2387+1G>A
ENST00000380550.6:c.2267+1G>A	ENSP00000369923.3:n.2267+1G>A
ENST00000380567.5:c.1967+1G>A	ENSP00000369941.1:n.1967+1G>A
ENST00000380567.6:c.*2080+1G>A	ENSP00000369941.2:n.*2080+1G>A
ENST00000398395.7:c.*727+1G>A	ENSP00000381432.4:n.*727+1G>A
ENST00000398395.8:c.*1848+1G>A	ENSP00000381432.5:n.*1848+1G>A
ENST00000464463.5:n.208+1G>A
ENST00000464463.6:n.4216+1G>A
ENST00000490265.5:n.3362+1G>A
ENST00000490265.6:n.2916+1G>A
ENST00000682237.1:c.*1947+1G>A	ENSP00000507121.1:n.*1947+1G>A
ENST00000682562.1:c.*3789+1G>A	ENSP00000507874.1:n.*3789+1G>A
ENST00000682953.1:c.*3114+1G>A	ENSP00000507878.1:n.*3114+1G>A
ENST00000683055.1:c.*3368+1G>A	ENSP00000508191.1:n.*3368+1G>A
ENST00000683284.1:c.*2618+1G>A	ENSP00000507837.1:n.*2618+1G>A
ENST00000683427.1:c.*1044+1G>A	ENSP00000507290.1:n.*1044+1G>A
ENST00000683454.1:n.2401+1G>A
ENST00000683637.1:n.3496+1G>A
ENST00000683655.1:c.*2601+1G>A	ENSP00000506770.1:n.*2601+1G>A
ENST00000683713.1:c.*2618+1G>A	ENSP00000507797.1:n.*2618+1G>A
ENST00000684577.1:c.*2084+1G>A	ENSP00000507871.1:n.*2084+1G>A
XM_005274599.2:c.2408+1G>A	XP_005274656.1:n.2408+1G>A
XM_005274602.2:c.2408+1G>A	XP_005274659.1:n.2408+1G>A
XM_005274603.2:c.2288+1G>A	XP_005274660.1:n.2288+1G>A
XM_005274604.2:c.2267+1G>A	XP_005274661.1:n.2267+1G>A
XM_005274606.2:c.2243+1G>A	XP_005274663.1:n.2243+1G>A
XM_005274606.4:c.2243+1G>A	XP_005274663.1:n.2243+1G>A
XM_005274607.3:c.1967+1G>A	XP_005274664.1:n.1967+1G>A
XM_011545591.1:c.2408+1G>A	XP_011543893.1:n.2408+1G>A
XM_011545592.1:c.2195+1G>A	XP_011543894.1:n.2195+1G>A
XM_011545592.3:c.2195+1G>A	XP_011543894.1:n.2195+1G>A
XM_011545593.1:c.2408+1G>A	XP_011543895.1:n.2408+1G>A
XM_011545594.1:c.2066+1G>A	XP_011543896.1:n.2066+1G>A
XM_011545594.3:c.2066+1G>A	XP_011543896.1:n.2066+1G>A
XM_011545595.1:c.2066+1G>A	XP_011543897.1:n.2066+1G>A
XM_011545596.1:c.2408+1G>A	XP_011543898.1:n.2408+1G>A
XM_011545597.1:c.1967+1G>A	XP_011543899.1:n.1967+1G>A
XM_011545597.2:c.1967+1G>A	XP_011543899.1:n.1967+1G>A
XM_011545598.1:c.1112+1G>A	XP_011543900.1:n.1112+1G>A
XM_017029909.1:c.1967+1G>A	XP_016885398.1:n.1967+1G>A
XM_017029911.1:c.1445+1G>A	XP_016885400.1:n.1445+1G>A
XM_024452468.1:c.1112+1G>A	XP_024308236.1:n.1112+1G>A
XM_024452469.1:c.1112+1G>A	XP_024308237.1:n.1112+1G>A
XM_024452470.1:c.1112+1G>A	XP_024308238.1:n.1112+1G>A
XM_024452471.1:c.1112+1G>A	XP_024308239.1:n.1112+1G>A
XR_247288.2:n.2747+1G>A