Canonical Allele Identifier: CA345134

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26462177C>T , CM000664.2:g.26462177C>T	GRCh38
NC_000002.11:g.26685045C>T , CM000664.1:g.26685045C>T	GRCh37
NC_000002.10:g.26538549C>T	NCBI36
NG_009937.1:g.101522G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_194248.3:c.5197G>A MANE Select	NP_919224.1:p.Glu1733Lys
ENST00000272371.7:c.5197G>A MANE Select	ENSP00000272371.2:p.Glu1733Lys
NM_194323.3:c.2896G>A MANE Plus Clinical	NP_919304.1:p.Glu966Lys
ENST00000339598.8:c.2896G>A MANE Plus Clinical	ENSP00000344521.3:p.Glu966Lys
NM_001287489.1:c.5197G>A	NP_001274418.1:p.Glu1733Lys
NM_001287489.2:c.5197G>A	NP_001274418.1:p.Glu1733Lys
NM_004802.3:c.2896G>A	NP_004793.2:p.Glu966Lys
NM_004802.4:c.2896G>A	NP_004793.2:p.Glu966Lys
NM_194248.2:c.5197G>A	NP_919224.1:p.Glu1733Lys
NM_194322.2:c.3127G>A	NP_919303.1:p.Glu1043Lys
NM_194322.3:c.3127G>A	NP_919303.1:p.Glu1043Lys
NM_194323.2:c.2896G>A	NP_919304.1:p.Glu966Lys
ENST00000272371.6:c.5197G>A	ENSP00000272371.2:p.Glu1733Lys
ENST00000338581.10:c.2896G>A	ENSP00000345137.6:p.Glu966Lys
ENST00000339598.7:c.2896G>A	ENSP00000344521.3:p.Glu966Lys
ENST00000402415.7:c.3127G>A	ENSP00000383906.3:p.Glu1043Lys
ENST00000402415.8:c.2956G>A	ENSP00000383906.4:p.Glu986Lys
ENST00000403946.7:c.5197G>A	ENSP00000385255.3:p.Glu1733Lys
XM_005264644.2:c.5182G>A	XP_005264701.1:p.Glu1728Lys
XM_011533185.1:c.5242G>A	XP_011531487.1:p.Glu1748Lys
XM_017005338.1:c.5137G>A	XP_016860827.1:p.Glu1713Lys