Canonical Allele Identifier: CA2658232218

Gene: OTOF

Linked Data

• gnomAD v4: 2-26457992-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26457992A>G , CM000664.2:g.26457992A>G	GRCh38
NC_000002.11:g.26680860A>G , CM000664.1:g.26680860A>G	GRCh37
NC_000002.10:g.26534364A>G	NCBI36
NG_009937.1:g.105707T>C
NG_042824.1:g.61081A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.*246T>C MANE Select	ENSP00000272371.2:n.*246T>C
ENST00000339598.8:c.*48T>C MANE Plus Clinical	ENSP00000344521.3:n.*48T>C
ENST00000402415.8:c.*246T>C	ENSP00000383906.4:n.*246T>C
ENST00000272371.6:c.*246T>C	ENSP00000272371.2:n.*246T>C
ENST00000338581.10:c.*246T>C	ENSP00000345137.6:n.*246T>C
ENST00000339598.7:c.*48T>C	ENSP00000344521.3:n.*48T>C
ENST00000402415.7:c.*246T>C	ENSP00000383906.3:n.*246T>C
ENST00000403946.7:c.*48T>C	ENSP00000385255.3:n.*48T>C
NM_001287489.1:c.*48T>C	NP_001274418.1:n.*48T>C
NM_004802.3:c.*246T>C	NP_004793.2:n.*246T>C
NM_194248.2:c.*246T>C	NP_919224.1:n.*246T>C
NM_194322.2:c.*246T>C	NP_919303.1:n.*246T>C
NM_194323.2:c.*48T>C	NP_919304.1:n.*48T>C
XM_005264644.2:c.6027T>C	XP_005264701.1:n.6027T>C
XM_011533185.1:c.6087T>C	XP_011531487.1:n.6087T>C
NM_001287489.2:c.*48T>C	NP_001274418.1:n.*48T>C
NM_004802.4:c.*246T>C	NP_004793.2:n.*246T>C
NM_194248.3:c.*246T>C MANE Select	NP_919224.1:n.*246T>C
NM_194322.3:c.*246T>C	NP_919303.1:n.*246T>C
NM_194323.3:c.*48T>C MANE Plus Clinical	NP_919304.1:n.*48T>C