Canonical Allele Identifier: CA346136048

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26466018C>A , CM000664.2:g.26466018C>A	GRCh38
NC_000002.11:g.26688886C>A , CM000664.1:g.26688886C>A	GRCh37
NC_000002.10:g.26542390C>A	NCBI36
NG_009937.1:g.97681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4559G>T MANE Select	ENSP00000272371.2:p.Arg1520Leu
ENST00000339598.8:c.2258G>T MANE Plus Clinical	ENSP00000344521.3:p.Arg753Leu
ENST00000402415.8:c.2318G>T	ENSP00000383906.4:p.Arg773Leu
ENST00000272371.6:c.4559G>T	ENSP00000272371.2:p.Arg1520Leu
ENST00000338581.10:c.2258G>T	ENSP00000345137.6:p.Arg753Leu
ENST00000339598.7:c.2258G>T	ENSP00000344521.3:p.Arg753Leu
ENST00000402415.7:c.2489G>T	ENSP00000383906.3:p.Arg830Leu
ENST00000403946.7:c.4559G>T	ENSP00000385255.3:p.Arg1520Leu
ENST00000464574.1:n.308G>T
NM_001287489.1:c.4559G>T	NP_001274418.1:p.Arg1520Leu
NM_004802.3:c.2258G>T	NP_004793.2:p.Arg753Leu
NM_194248.2:c.4559G>T	NP_919224.1:p.Arg1520Leu
NM_194322.2:c.2489G>T	NP_919303.1:p.Arg830Leu
NM_194323.2:c.2258G>T	NP_919304.1:p.Arg753Leu
XM_005264644.2:c.4544G>T	XP_005264701.1:p.Arg1515Leu
XM_011533185.1:c.4604G>T	XP_011531487.1:p.Arg1535Leu
XM_017005338.1:c.4499G>T	XP_016860827.1:p.Arg1500Leu
NM_001287489.2:c.4559G>T	NP_001274418.1:p.Arg1520Leu
NM_004802.4:c.2258G>T	NP_004793.2:p.Arg753Leu
NM_194248.3:c.4559G>T MANE Select	NP_919224.1:p.Arg1520Leu
NM_194322.3:c.2489G>T	NP_919303.1:p.Arg830Leu
NM_194323.3:c.2258G>T MANE Plus Clinical	NP_919304.1:p.Arg753Leu