Canonical Allele Identifier: CA346128107

Gene: OTOF

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_194248.3:c.5816G>T MANE Select	NP_919224.1:p.Arg1939Leu
ENST00000272371.7:c.5816G>T MANE Select	ENSP00000272371.2:p.Arg1939Leu
NM_194323.3:c.3512+444G>T MANE Plus Clinical	NP_919304.1:n.3512+444G>T
ENST00000339598.8:c.3512+444G>T MANE Plus Clinical	ENSP00000344521.3:n.3512+444G>T
NM_001287489.1:c.5813+444G>T	NP_001274418.1:n.5813+444G>T
NM_001287489.2:c.5813+444G>T	NP_001274418.1:n.5813+444G>T
NM_004802.3:c.3515G>T	NP_004793.2:p.Arg1172Leu
NM_004802.4:c.3515G>T	NP_004793.2:p.Arg1172Leu
NM_194248.2:c.5816G>T	NP_919224.1:p.Arg1939Leu
NM_194322.2:c.3746G>T	NP_919303.1:p.Arg1249Leu
NM_194322.3:c.3746G>T	NP_919303.1:p.Arg1249Leu
NM_194323.2:c.3512+444G>T	NP_919304.1:n.3512+444G>T
ENST00000272371.6:c.5816G>T	ENSP00000272371.2:p.Arg1939Leu
ENST00000338581.10:c.3515G>T	ENSP00000345137.6:p.Arg1172Leu
ENST00000339598.7:c.3512+444G>T	ENSP00000344521.3:n.3512+444G>T
ENST00000402415.7:c.3746G>T	ENSP00000383906.3:p.Arg1249Leu
ENST00000402415.8:c.3575G>T	ENSP00000383906.4:p.Arg1192Leu
ENST00000403946.7:c.5813+444G>T	ENSP00000385255.3:n.5813+444G>T
XM_005264644.2:c.5798+444G>T	XP_005264701.1:n.5798+444G>T
XM_011533185.1:c.5858+444G>T	XP_011531487.1:n.5858+444G>T
XM_017005338.1:c.5756G>T	XP_016860827.1:p.Arg1919Leu