Canonical Allele Identifier: CA515466785

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13763764G>A , CM000685.2:g.13763764G>A	GRCh38
NC_000023.10:g.13781883G>A , CM000685.1:g.13781883G>A	GRCh37
NC_000023.9:g.13691804G>A	NCBI36
NG_008872.1:g.34052G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2508G>A MANE Select	NP_003602.1:p.Arg836=
ENST00000340096.11:c.2508G>A MANE Select	ENSP00000344314.6:p.Arg836=
NM_001330209.1:c.2388G>A	NP_001317138.1:p.Arg796=
NM_001330209.2:c.2388G>A	NP_001317138.1:p.Arg796=
NM_001330210.1:c.2088G>A	NP_001317139.1:p.Arg696=
NM_001330210.2:c.2088G>A	NP_001317139.1:p.Arg696=
NM_003611.2:c.2508G>A	NP_003602.1:p.Arg836=
ENST00000340096.10:c.2508G>A	ENSP00000344314.6:p.Arg836=
ENST00000380550.6:c.2388G>A	ENSP00000369923.3:p.Arg796=
ENST00000380567.5:c.2088G>A	ENSP00000369941.1:p.Arg696=
ENST00000380567.6:c.*2201G>A	ENSP00000369941.2:n.*2201G>A
ENST00000398395.7:c.*848G>A	ENSP00000381432.4:n.*848G>A
ENST00000398395.8:c.*1969G>A	ENSP00000381432.5:n.*1969G>A
ENST00000464463.5:n.309+1320G>A
ENST00000464463.6:n.4337G>A
ENST00000490265.5:n.3483G>A
ENST00000490265.6:n.3037G>A
ENST00000682237.1:c.*2068G>A	ENSP00000507121.1:n.*2068G>A
ENST00000682562.1:c.*3890+1320G>A	ENSP00000507874.1:n.*3890+1320G>A
ENST00000682953.1:c.*3215+1320G>A	ENSP00000507878.1:n.*3215+1320G>A
ENST00000683055.1:c.*3469+1320G>A	ENSP00000508191.1:n.*3469+1320G>A
ENST00000683284.1:c.*2739G>A	ENSP00000507837.1:n.*2739G>A
ENST00000683427.1:c.*1165G>A	ENSP00000507290.1:n.*1165G>A
ENST00000683454.1:n.2522G>A
ENST00000683637.1:n.3617G>A
ENST00000683655.1:c.*2722G>A	ENSP00000506770.1:n.*2722G>A
ENST00000683713.1:c.*2739G>A	ENSP00000507797.1:n.*2739G>A
ENST00000684577.1:c.*2185+1320G>A	ENSP00000507871.1:n.*2185+1320G>A
XM_005274599.2:c.2529G>A	XP_005274656.1:p.Arg843=
XM_005274602.2:c.2509+1320G>A	XP_005274659.1:n.2509+1320G>A
XM_005274603.2:c.2409G>A	XP_005274660.1:p.Arg803=
XM_005274604.2:c.2388G>A	XP_005274661.1:p.Arg796=
XM_005274606.2:c.2364G>A	XP_005274663.1:p.Arg788=
XM_005274606.4:c.2364G>A	XP_005274663.1:p.Arg788=
XM_005274607.3:c.2088G>A	XP_005274664.1:p.Arg696=
XM_011545591.1:c.2529G>A	XP_011543893.1:p.Arg843=
XM_011545592.1:c.2316G>A	XP_011543894.1:p.Arg772=
XM_011545592.3:c.2316G>A	XP_011543894.1:p.Arg772=
XM_011545593.1:c.2529G>A	XP_011543895.1:p.Arg843=
XM_011545594.1:c.2187G>A	XP_011543896.1:p.Arg729=
XM_011545594.3:c.2187G>A	XP_011543896.1:p.Arg729=
XM_011545595.1:c.2187G>A	XP_011543897.1:p.Arg729=
XM_011545596.1:c.2509+1320G>A	XP_011543898.1:n.2509+1320G>A
XM_011545597.1:c.2068+1320G>A	XP_011543899.1:n.2068+1320G>A
XM_011545597.2:c.2068+1320G>A	XP_011543899.1:n.2068+1320G>A
XM_011545598.1:c.1233G>A	XP_011543900.1:p.Arg411=
XM_017029909.1:c.2088G>A	XP_016885398.1:p.Arg696=
XM_017029911.1:c.1566G>A	XP_016885400.1:p.Arg522=
XM_024452468.1:c.1233G>A	XP_024308236.1:p.Arg411=
XM_024452469.1:c.1233G>A	XP_024308237.1:p.Arg411=
XM_024452470.1:c.1233G>A	XP_024308238.1:p.Arg411=
XM_024452471.1:c.1213+1320G>A	XP_024308239.1:n.1213+1320G>A
XR_247288.2:n.2868G>A