Canonical Allele Identifier: CA10351676
Community Standard Title: NM_003611.3(OFD1):c.730A>G (p.Met244Val)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13746855A>G , CM000685.2:g.13746855A>G GRCh38
NC_000023.10:g.13764974A>G , CM000685.1:g.13764974A>G GRCh37
NC_000023.9:g.13674895A>G NCBI36
NG_008872.1:g.17143A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.730A>G MANE Select NP_003602.1:p.Met244Val
ENST00000340096.11:c.730A>G MANE Select ENSP00000344314.6:p.Met244Val
NM_001330209.1:c.730A>G NP_001317138.1:p.Met244Val
NM_001330209.2:c.730A>G NP_001317138.1:p.Met244Val
NM_001330210.1:c.310A>G NP_001317139.1:p.Met104Val
NM_001330210.2:c.310A>G NP_001317139.1:p.Met104Val
NM_003611.2:c.730A>G NP_003602.1:p.Met244Val
ENST00000340096.10:c.730A>G ENSP00000344314.6:p.Met244Val
ENST00000380550.6:c.730A>G ENSP00000369923.3:p.Met244Val
ENST00000380567.5:c.310A>G ENSP00000369941.1:p.Met104Val
ENST00000380567.6:c.*423A>G ENSP00000369941.2:n.*423A>G
ENST00000398395.7:c.319A>G ENSP00000381432.4:p.Met107Val
ENST00000398395.8:c.*423A>G ENSP00000381432.5:n.*423A>G
ENST00000464463.6:n.1013A>G
ENST00000490265.5:n.1041A>G
ENST00000490265.6:n.592A>G
ENST00000682237.1:c.730A>G ENSP00000507121.1:p.Met244Val
ENST00000682562.1:c.*423A>G ENSP00000507874.1:n.*423A>G
ENST00000682953.1:c.*793A>G ENSP00000507878.1:n.*793A>G
ENST00000683055.1:c.625A>G ENSP00000508191.1:p.Met209Val
ENST00000683065.1:n.139A>G
ENST00000683284.1:c.*297A>G ENSP00000507837.1:n.*297A>G
ENST00000683427.1:c.730A>G ENSP00000507290.1:p.Met244Val
ENST00000683454.1:n.744A>G
ENST00000683637.1:n.1175A>G
ENST00000683655.1:c.*280A>G ENSP00000506770.1:n.*280A>G
ENST00000683713.1:c.*297A>G ENSP00000507797.1:n.*297A>G
ENST00000684577.1:c.*423A>G ENSP00000507871.1:n.*423A>G
XM_005274599.2:c.751A>G XP_005274656.1:p.Met251Val
XM_005274602.2:c.751A>G XP_005274659.1:p.Met251Val
XM_005274603.2:c.751A>G XP_005274660.1:p.Met251Val
XM_005274604.2:c.730A>G XP_005274661.1:p.Met244Val
XM_005274606.2:c.586A>G XP_005274663.1:p.Met196Val
XM_005274606.4:c.586A>G XP_005274663.1:p.Met196Val
XM_005274607.3:c.310A>G XP_005274664.1:p.Met104Val
XM_011545591.1:c.751A>G XP_011543893.1:p.Met251Val
XM_011545592.1:c.538A>G XP_011543894.1:p.Met180Val
XM_011545592.3:c.538A>G XP_011543894.1:p.Met180Val
XM_011545593.1:c.751A>G XP_011543895.1:p.Met251Val
XM_011545594.1:c.409A>G XP_011543896.1:p.Met137Val
XM_011545594.3:c.409A>G XP_011543896.1:p.Met137Val
XM_011545595.1:c.409A>G XP_011543897.1:p.Met137Val
XM_011545596.1:c.751A>G XP_011543898.1:p.Met251Val
XM_011545597.1:c.310A>G XP_011543899.1:p.Met104Val
XM_011545597.2:c.310A>G XP_011543899.1:p.Met104Val
XM_017029909.1:c.310A>G XP_016885398.1:p.Met104Val
XM_024452468.1:c.-1210A>G XP_024308236.1:n.-1210A>G
XM_024452469.1:c.-1210A>G XP_024308237.1:n.-1210A>G
XM_024452470.1:c.-1210A>G XP_024308238.1:n.-1210A>G
XM_024452471.1:c.-1210A>G XP_024308239.1:n.-1210A>G
XR_247288.2:n.1090A>G