Canonical Allele Identifier: CA1239824171
Community Standard Title: NM_194248.3(OTOF):c.5816G= (p.Arg1939=)
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460203C= , CM000664.2:g.26460203C= GRCh38
NC_000002.11:g.26683071C= , CM000664.1:g.26683071C= GRCh37
NC_000002.10:g.26536575C= NCBI36
NG_009937.1:g.103496G=

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.5816G= MANE Select NP_919224.1:p.Arg1939=
ENST00000272371.7:c.5816G= MANE Select ENSP00000272371.2:p.Arg1939=
NM_194323.3:c.3512+444G= MANE Plus Clinical NP_919304.1:n.3512+444G=
ENST00000339598.8:c.3512+444G= MANE Plus Clinical ENSP00000344521.3:n.3512+444G=
NM_001287489.1:c.5813+444G= NP_001274418.1:n.5813+444G=
NM_001287489.2:c.5813+444G= NP_001274418.1:n.5813+444G=
NM_004802.3:c.3515G= NP_004793.2:p.Arg1172=
NM_004802.4:c.3515G= NP_004793.2:p.Arg1172=
NM_194248.2:c.5816G= NP_919224.1:p.Arg1939=
NM_194322.2:c.3746G= NP_919303.1:p.Arg1249=
NM_194322.3:c.3746G= NP_919303.1:p.Arg1249=
NM_194323.2:c.3512+444G= NP_919304.1:n.3512+444G=
ENST00000272371.6:c.5816G= ENSP00000272371.2:p.Arg1939=
ENST00000338581.10:c.3515G= ENSP00000345137.6:p.Arg1172=
ENST00000339598.7:c.3512+444G= ENSP00000344521.3:n.3512+444G=
ENST00000402415.7:c.3746G= ENSP00000383906.3:p.Arg1249=
ENST00000402415.8:c.3575G= ENSP00000383906.4:p.Arg1192=
ENST00000403946.7:c.5813+444G= ENSP00000385255.3:n.5813+444G=
XM_005264644.2:c.5798+444G= XP_005264701.1:n.5798+444G=
XM_011533185.1:c.5858+444G= XP_011531487.1:n.5858+444G=
XM_017005338.1:c.5756G= XP_016860827.1:p.Arg1919=