Canonical Allele Identifier: CA346108309

Gene: OTOF

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26474524C>G , CM000664.2:g.26474524C>G	GRCh38
NC_000002.11:g.26697392C>G , CM000664.1:g.26697392C>G	GRCh37
NC_000002.10:g.26550896C>G	NCBI36
NG_009937.1:g.89175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.3277G>C MANE Select	ENSP00000272371.2:p.Glu1093Gln
ENST00000339598.8:c.1036G>C MANE Plus Clinical	ENSP00000344521.3:p.Glu346Gln
ENST00000402415.8:c.1036G>C	ENSP00000383906.4:p.Glu346Gln
ENST00000272371.6:c.3277G>C	ENSP00000272371.2:p.Glu1093Gln
ENST00000338581.10:c.1036G>C	ENSP00000345137.6:p.Glu346Gln
ENST00000339598.7:c.1036G>C	ENSP00000344521.3:p.Glu346Gln
ENST00000402415.7:c.1207G>C	ENSP00000383906.3:p.Glu403Gln
ENST00000403946.7:c.3277G>C	ENSP00000385255.3:p.Glu1093Gln
NM_001287489.1:c.3277G>C	NP_001274418.1:p.Glu1093Gln
NM_004802.3:c.1036G>C	NP_004793.2:p.Glu346Gln
NM_194248.2:c.3277G>C	NP_919224.1:p.Glu1093Gln
NM_194322.2:c.1207G>C	NP_919303.1:p.Glu403Gln
NM_194323.2:c.1036G>C	NP_919304.1:p.Glu346Gln
XM_005264644.2:c.3322G>C	XP_005264701.1:p.Glu1108Gln
XM_011533185.1:c.3322G>C	XP_011531487.1:p.Glu1108Gln
XM_017005338.1:c.3277G>C	XP_016860827.1:p.Glu1093Gln
NM_001287489.2:c.3277G>C	NP_001274418.1:p.Glu1093Gln
NM_004802.4:c.1036G>C	NP_004793.2:p.Glu346Gln
NM_194248.3:c.3277G>C MANE Select	NP_919224.1:p.Glu1093Gln
NM_194322.3:c.1207G>C	NP_919303.1:p.Glu403Gln
NM_194323.3:c.1036G>C MANE Plus Clinical	NP_919304.1:p.Glu346Gln