Canonical Allele Identifier: CA10351623
Community Standard Title: NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13744505A>G , CM000685.2:g.13744505A>G GRCh38
NC_000023.10:g.13762624A>G , CM000685.1:g.13762624A>G GRCh37
NC_000023.9:g.13672545A>G NCBI36
NG_008872.1:g.14793A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.503A>G MANE Select NP_003602.1:p.Asn168Ser
ENST00000340096.11:c.503A>G MANE Select ENSP00000344314.6:p.Asn168Ser
NM_001330209.1:c.503A>G NP_001317138.1:p.Asn168Ser
NM_001330209.2:c.503A>G NP_001317138.1:p.Asn168Ser
NM_001330210.1:c.83A>G NP_001317139.1:p.Asn28Ser
NM_001330210.2:c.83A>G NP_001317139.1:p.Asn28Ser
NM_003611.2:c.503A>G NP_003602.1:p.Asn168Ser
ENST00000340096.10:c.503A>G ENSP00000344314.6:p.Asn168Ser
ENST00000380550.6:c.503A>G ENSP00000369923.3:p.Asn168Ser
ENST00000380567.5:c.83A>G ENSP00000369941.1:p.Asn28Ser
ENST00000380567.6:c.*196A>G ENSP00000369941.2:n.*196A>G
ENST00000398395.7:c.92A>G ENSP00000381432.4:p.Asn31Ser
ENST00000398395.8:c.*196A>G ENSP00000381432.5:n.*196A>G
ENST00000464463.6:n.786A>G
ENST00000490265.5:n.814A>G
ENST00000490265.6:n.365A>G
ENST00000682237.1:c.503A>G ENSP00000507121.1:p.Asn168Ser
ENST00000682562.1:c.*196A>G ENSP00000507874.1:n.*196A>G
ENST00000682953.1:c.*566A>G ENSP00000507878.1:n.*566A>G
ENST00000683055.1:c.413-1814A>G ENSP00000508191.1:n.413-1814A>G
ENST00000683284.1:c.*70A>G ENSP00000507837.1:n.*70A>G
ENST00000683427.1:c.503A>G ENSP00000507290.1:p.Asn168Ser
ENST00000683454.1:n.517A>G
ENST00000683637.1:n.948A>G
ENST00000683655.1:c.503A>G ENSP00000506770.1:p.Asn168Ser
ENST00000683713.1:c.*70A>G ENSP00000507797.1:n.*70A>G
ENST00000684577.1:c.*196A>G ENSP00000507871.1:n.*196A>G
XM_005274599.2:c.524A>G XP_005274656.1:p.Asn175Ser
XM_005274602.2:c.524A>G XP_005274659.1:p.Asn175Ser
XM_005274603.2:c.524A>G XP_005274660.1:p.Asn175Ser
XM_005274604.2:c.503A>G XP_005274661.1:p.Asn168Ser
XM_005274606.2:c.359A>G XP_005274663.1:p.Asn120Ser
XM_005274606.4:c.359A>G XP_005274663.1:p.Asn120Ser
XM_005274607.3:c.83A>G XP_005274664.1:p.Asn28Ser
XM_011545591.1:c.524A>G XP_011543893.1:p.Asn175Ser
XM_011545592.1:c.311A>G XP_011543894.1:p.Asn104Ser
XM_011545592.3:c.311A>G XP_011543894.1:p.Asn104Ser
XM_011545593.1:c.524A>G XP_011543895.1:p.Asn175Ser
XM_011545594.1:c.182A>G XP_011543896.1:p.Asn61Ser
XM_011545594.3:c.182A>G XP_011543896.1:p.Asn61Ser
XM_011545595.1:c.182A>G XP_011543897.1:p.Asn61Ser
XM_011545596.1:c.524A>G XP_011543898.1:p.Asn175Ser
XM_011545597.1:c.83A>G XP_011543899.1:p.Asn28Ser
XM_011545597.2:c.83A>G XP_011543899.1:p.Asn28Ser
XM_017029909.1:c.83A>G XP_016885398.1:p.Asn28Ser
XM_024452468.1:c.-1437A>G XP_024308236.1:n.-1437A>G
XM_024452469.1:c.-1437A>G XP_024308237.1:n.-1437A>G
XM_024452470.1:c.-1437A>G XP_024308238.1:n.-1437A>G
XM_024452471.1:c.-1437A>G XP_024308239.1:n.-1437A>G
XR_247288.2:n.863A>G