Canonical Allele Identifier: CA10351646

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13746370G>A , CM000685.2:g.13746370G>A	GRCh38
NC_000023.10:g.13764489G>A , CM000685.1:g.13764489G>A	GRCh37
NC_000023.9:g.13674410G>A	NCBI36
NG_008872.1:g.16658G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.569G>A MANE Select	NP_003602.1:p.Arg190His
ENST00000340096.11:c.569G>A MANE Select	ENSP00000344314.6:p.Arg190His
NM_001330209.1:c.569G>A	NP_001317138.1:p.Arg190His
NM_001330209.2:c.569G>A	NP_001317138.1:p.Arg190His
NM_001330210.1:c.149G>A	NP_001317139.1:p.Arg50His
NM_001330210.2:c.149G>A	NP_001317139.1:p.Arg50His
NM_003611.2:c.569G>A	NP_003602.1:p.Arg190His
ENST00000340096.10:c.569G>A	ENSP00000344314.6:p.Arg190His
ENST00000380550.6:c.569G>A	ENSP00000369923.3:p.Arg190His
ENST00000380567.5:c.149G>A	ENSP00000369941.1:p.Arg50His
ENST00000380567.6:c.*262G>A	ENSP00000369941.2:n.*262G>A
ENST00000398395.7:c.158G>A	ENSP00000381432.4:p.Arg53His
ENST00000398395.8:c.*262G>A	ENSP00000381432.5:n.*262G>A
ENST00000464463.6:n.852G>A
ENST00000490265.5:n.880G>A
ENST00000490265.6:n.431G>A
ENST00000682237.1:c.569G>A	ENSP00000507121.1:p.Arg190His
ENST00000682562.1:c.*262G>A	ENSP00000507874.1:n.*262G>A
ENST00000682953.1:c.*632G>A	ENSP00000507878.1:n.*632G>A
ENST00000683055.1:c.464G>A	ENSP00000508191.1:p.Arg155His
ENST00000683284.1:c.*136G>A	ENSP00000507837.1:n.*136G>A
ENST00000683427.1:c.569G>A	ENSP00000507290.1:p.Arg190His
ENST00000683454.1:n.583G>A
ENST00000683637.1:n.1014G>A
ENST00000683655.1:c.*119G>A	ENSP00000506770.1:n.*119G>A
ENST00000683713.1:c.*136G>A	ENSP00000507797.1:n.*136G>A
ENST00000684577.1:c.*262G>A	ENSP00000507871.1:n.*262G>A
XM_005274599.2:c.590G>A	XP_005274656.1:p.Arg197His
XM_005274602.2:c.590G>A	XP_005274659.1:p.Arg197His
XM_005274603.2:c.590G>A	XP_005274660.1:p.Arg197His
XM_005274604.2:c.569G>A	XP_005274661.1:p.Arg190His
XM_005274606.2:c.425G>A	XP_005274663.1:p.Arg142His
XM_005274606.4:c.425G>A	XP_005274663.1:p.Arg142His
XM_005274607.3:c.149G>A	XP_005274664.1:p.Arg50His
XM_011545591.1:c.590G>A	XP_011543893.1:p.Arg197His
XM_011545592.1:c.377G>A	XP_011543894.1:p.Arg126His
XM_011545592.3:c.377G>A	XP_011543894.1:p.Arg126His
XM_011545593.1:c.590G>A	XP_011543895.1:p.Arg197His
XM_011545594.1:c.248G>A	XP_011543896.1:p.Arg83His
XM_011545594.3:c.248G>A	XP_011543896.1:p.Arg83His
XM_011545595.1:c.248G>A	XP_011543897.1:p.Arg83His
XM_011545596.1:c.590G>A	XP_011543898.1:p.Arg197His
XM_011545597.1:c.149G>A	XP_011543899.1:p.Arg50His
XM_011545597.2:c.149G>A	XP_011543899.1:p.Arg50His
XM_017029909.1:c.149G>A	XP_016885398.1:p.Arg50His
XM_024452468.1:c.-1371G>A	XP_024308236.1:n.-1371G>A
XM_024452469.1:c.-1371G>A	XP_024308237.1:n.-1371G>A
XM_024452470.1:c.-1371G>A	XP_024308238.1:n.-1371G>A
XM_024452471.1:c.-1371G>A	XP_024308239.1:n.-1371G>A
XR_247288.2:n.929G>A