Canonical Allele Identifier: CA346138004

Gene: OTOF

Linked Data

• dbSNP Id: rs1193069930
• gnomAD v3: 2-26484633-T-C
• gnomAD v4: 2-26484633-T-C
• MyVariant Identifiers: chr2:g.26707501T>C (hg19) ; chr2:g.26484633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26484633T>C , CM000664.2:g.26484633T>C	GRCh38
NC_000002.11:g.26707501T>C , CM000664.1:g.26707501T>C	GRCh37
NC_000002.10:g.26561005T>C	NCBI36
NG_009937.1:g.79066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1046A>G MANE Select	ENSP00000272371.2:p.Glu349Gly
ENST00000272371.6:c.1046A>G	ENSP00000272371.2:p.Glu349Gly
ENST00000403946.7:c.1046A>G	ENSP00000385255.3:p.Glu349Gly
NM_001287489.1:c.1046A>G	NP_001274418.1:p.Glu349Gly
NM_194248.2:c.1046A>G	NP_919224.1:p.Glu349Gly
XM_005264644.2:c.1091A>G	XP_005264701.1:p.Glu364Gly
XM_011533185.1:c.1091A>G	XP_011531487.1:p.Glu364Gly
XM_017005338.1:c.1046A>G	XP_016860827.1:p.Glu349Gly
NM_001287489.2:c.1046A>G	NP_001274418.1:p.Glu349Gly
NM_194248.3:c.1046A>G MANE Select	NP_919224.1:p.Glu349Gly