Canonical Allele Identifier: CA346125170

Gene: OTOF

Linked Data

• dbSNP Id: rs1268939842
• gnomAD v4: 2-26458093-G-T
• MyVariant Identifiers: chr2:g.26680961G>T (hg19) ; chr2:g.26458093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26458093G>T , CM000664.2:g.26458093G>T	GRCh38
NC_000002.11:g.26680961G>T , CM000664.1:g.26680961G>T	GRCh37
NC_000002.10:g.26534465G>T	NCBI36
NG_009937.1:g.105606C>A
NG_042824.1:g.61182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.*145C>A MANE Select	ENSP00000272371.2:n.*145C>A
ENST00000339598.8:c.3640C>A MANE Plus Clinical	ENSP00000344521.3:p.Leu1214Ile
ENST00000402415.8:c.*145C>A	ENSP00000383906.4:n.*145C>A
ENST00000272371.6:c.*145C>A	ENSP00000272371.2:n.*145C>A
ENST00000338581.10:c.*145C>A	ENSP00000345137.6:n.*145C>A
ENST00000339598.7:c.3640C>A	ENSP00000344521.3:p.Leu1214Ile
ENST00000402415.7:c.*145C>A	ENSP00000383906.3:n.*145C>A
ENST00000403946.7:c.5941C>A	ENSP00000385255.3:p.Leu1981Ile
NM_001287489.1:c.5941C>A	NP_001274418.1:p.Leu1981Ile
NM_004802.3:c.*145C>A	NP_004793.2:n.*145C>A
NM_194248.2:c.*145C>A	NP_919224.1:n.*145C>A
NM_194322.2:c.*145C>A	NP_919303.1:n.*145C>A
NM_194323.2:c.3640C>A	NP_919304.1:p.Leu1214Ile
XM_005264644.2:c.5926C>A	XP_005264701.1:p.Leu1976Ile
XM_011533185.1:c.5986C>A	XP_011531487.1:p.Leu1996Ile
NM_001287489.2:c.5941C>A	NP_001274418.1:p.Leu1981Ile
NM_004802.4:c.*145C>A	NP_004793.2:n.*145C>A
NM_194248.3:c.*145C>A MANE Select	NP_919224.1:n.*145C>A
NM_194322.3:c.*145C>A	NP_919303.1:n.*145C>A
NM_194323.3:c.3640C>A MANE Plus Clinical	NP_919304.1:p.Leu1214Ile