Canonical Allele Identifier: CA346135761

Gene: OTOF

Linked Data

• dbSNP Id: rs1178069041
• gnomAD v2: 2-26705415-C-T
• gnomAD v4: 2-26482547-C-T
• MyVariant Identifiers: chr2:g.26705415C>T (hg19) ; chr2:g.26482547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482547C>T , CM000664.2:g.26482547C>T	GRCh38
NC_000002.11:g.26705415C>T , CM000664.1:g.26705415C>T	GRCh37
NC_000002.10:g.26558919C>T	NCBI36
NG_009937.1:g.81152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1438G>A MANE Select	ENSP00000272371.2:p.Glu480Lys
ENST00000272371.6:c.1438G>A	ENSP00000272371.2:p.Glu480Lys
ENST00000403946.7:c.1438G>A	ENSP00000385255.3:p.Glu480Lys
NM_001287489.1:c.1438G>A	NP_001274418.1:p.Glu480Lys
NM_194248.2:c.1438G>A	NP_919224.1:p.Glu480Lys
XM_005264644.2:c.1483G>A	XP_005264701.1:p.Glu495Lys
XM_011533185.1:c.1483G>A	XP_011531487.1:p.Glu495Lys
XM_017005338.1:c.1438G>A	XP_016860827.1:p.Glu480Lys
NM_001287489.2:c.1438G>A	NP_001274418.1:p.Glu480Lys
NM_194248.3:c.1438G>A MANE Select	NP_919224.1:p.Glu480Lys