Canonical Allele Identifier: CA1564334

Gene: OTOF

Linked Data

• dbSNP Id: rs747492513
• ExAC: 2:26706500 C / T
• gnomAD v2: 2-26706500-C-T
• gnomAD v3: 2-26483632-C-T
• gnomAD v4: 2-26483632-C-T
• COSMIC: COSM1306649
• MyVariant Identifiers: chr2:g.26706500C>T (hg19) ; chr2:g.26483632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483632C>T , CM000664.2:g.26483632C>T	GRCh38
NC_000002.11:g.26706500C>T , CM000664.1:g.26706500C>T	GRCh37
NC_000002.10:g.26560004C>T	NCBI36
NG_009937.1:g.80067G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1222G>A MANE Select	ENSP00000272371.2:p.Glu408Lys
ENST00000272371.6:c.1222G>A	ENSP00000272371.2:p.Glu408Lys
ENST00000403946.7:c.1222G>A	ENSP00000385255.3:p.Glu408Lys
NM_001287489.1:c.1222G>A	NP_001274418.1:p.Glu408Lys
NM_194248.2:c.1222G>A	NP_919224.1:p.Glu408Lys
XM_005264644.2:c.1267G>A	XP_005264701.1:p.Glu423Lys
XM_011533185.1:c.1267G>A	XP_011531487.1:p.Glu423Lys
XM_017005338.1:c.1222G>A	XP_016860827.1:p.Glu408Lys
NM_001287489.2:c.1222G>A	NP_001274418.1:p.Glu408Lys
NM_194248.3:c.1222G>A MANE Select	NP_919224.1:p.Glu408Lys