Canonical Allele Identifier: CA412342432
Community Standard Title: NM_003611.3(OFD1):c.1205G>A (p.Arg402His)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13755226G>A , CM000685.2:g.13755226G>A GRCh38
NC_000023.10:g.13773345G>A , CM000685.1:g.13773345G>A GRCh37
NC_000023.9:g.13683266G>A NCBI36
NG_008872.1:g.25514G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.1205G>A MANE Select NP_003602.1:p.Arg402His
ENST00000340096.11:c.1205G>A MANE Select ENSP00000344314.6:p.Arg402His
NM_001330209.1:c.1085G>A NP_001317138.1:p.Arg362His
NM_001330209.2:c.1085G>A NP_001317138.1:p.Arg362His
NM_001330210.1:c.785G>A NP_001317139.1:p.Arg262His
NM_001330210.2:c.785G>A NP_001317139.1:p.Arg262His
NM_003611.2:c.1205G>A NP_003602.1:p.Arg402His
ENST00000340096.10:c.1205G>A ENSP00000344314.6:p.Arg402His
ENST00000380550.6:c.1085G>A ENSP00000369923.3:p.Arg362His
ENST00000380567.5:c.785G>A ENSP00000369941.1:p.Arg262His
ENST00000380567.6:c.*898G>A ENSP00000369941.2:n.*898G>A
ENST00000398395.7:c.674G>A ENSP00000381432.4:p.Arg225His
ENST00000398395.8:c.*778G>A ENSP00000381432.5:n.*778G>A
ENST00000464463.6:n.1368G>A
ENST00000490265.5:n.2180G>A
ENST00000490265.6:n.1734G>A
ENST00000682237.1:c.*765G>A ENSP00000507121.1:n.*765G>A
ENST00000682562.1:c.*2607G>A ENSP00000507874.1:n.*2607G>A
ENST00000682953.1:c.*1932G>A ENSP00000507878.1:n.*1932G>A
ENST00000683055.1:c.831-1352G>A ENSP00000508191.1:n.831-1352G>A
ENST00000683284.1:c.*1436G>A ENSP00000507837.1:n.*1436G>A
ENST00000683427.1:c.936-1352G>A ENSP00000507290.1:n.936-1352G>A
ENST00000683454.1:n.1219G>A
ENST00000683637.1:n.2314G>A
ENST00000683655.1:c.*1419G>A ENSP00000506770.1:n.*1419G>A
ENST00000683713.1:c.*1436G>A ENSP00000507797.1:n.*1436G>A
ENST00000684577.1:c.*898G>A ENSP00000507871.1:n.*898G>A
XM_005274599.2:c.1226G>A XP_005274656.1:p.Arg409His
XM_005274602.2:c.1226G>A XP_005274659.1:p.Arg409His
XM_005274603.2:c.1106G>A XP_005274660.1:p.Arg369His
XM_005274604.2:c.1085G>A XP_005274661.1:p.Arg362His
XM_005274606.2:c.1061G>A XP_005274663.1:p.Arg354His
XM_005274606.4:c.1061G>A XP_005274663.1:p.Arg354His
XM_005274607.3:c.785G>A XP_005274664.1:p.Arg262His
XM_011545591.1:c.1226G>A XP_011543893.1:p.Arg409His
XM_011545592.1:c.1013G>A XP_011543894.1:p.Arg338His
XM_011545592.3:c.1013G>A XP_011543894.1:p.Arg338His
XM_011545593.1:c.1226G>A XP_011543895.1:p.Arg409His
XM_011545594.1:c.884G>A XP_011543896.1:p.Arg295His
XM_011545594.3:c.884G>A XP_011543896.1:p.Arg295His
XM_011545595.1:c.884G>A XP_011543897.1:p.Arg295His
XM_011545596.1:c.1226G>A XP_011543898.1:p.Arg409His
XM_011545597.1:c.785G>A XP_011543899.1:p.Arg262His
XM_011545597.2:c.785G>A XP_011543899.1:p.Arg262His
XM_011545598.1:c.-54-1352G>A XP_011543900.1:n.-54-1352G>A
XM_017029909.1:c.785G>A XP_016885398.1:p.Arg262His
XM_017029911.1:c.263G>A XP_016885400.1:p.Arg88His
XM_024452468.1:c.-71G>A XP_024308236.1:n.-71G>A
XM_024452469.1:c.-71G>A XP_024308237.1:n.-71G>A
XM_024452470.1:c.-71G>A XP_024308238.1:n.-71G>A
XM_024452471.1:c.-71G>A XP_024308239.1:n.-71G>A
XR_247288.2:n.1565G>A