Canonical Allele Identifier: CA2658232217

Gene: OTOF

Linked Data

• gnomAD v4: 2-26457990-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26457990G>T , CM000664.2:g.26457990G>T	GRCh38
NC_000002.11:g.26680858G>T , CM000664.1:g.26680858G>T	GRCh37
NC_000002.10:g.26534362G>T	NCBI36
NG_009937.1:g.105709C>A
NG_042824.1:g.61079G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.*248C>A MANE Select	ENSP00000272371.2:n.*248C>A
ENST00000339598.8:c.*50C>A MANE Plus Clinical	ENSP00000344521.3:n.*50C>A
ENST00000402415.8:c.*248C>A	ENSP00000383906.4:n.*248C>A
ENST00000272371.6:c.*248C>A	ENSP00000272371.2:n.*248C>A
ENST00000338581.10:c.*248C>A	ENSP00000345137.6:n.*248C>A
ENST00000339598.7:c.*50C>A	ENSP00000344521.3:n.*50C>A
ENST00000402415.7:c.*248C>A	ENSP00000383906.3:n.*248C>A
ENST00000403946.7:c.*50C>A	ENSP00000385255.3:n.*50C>A
NM_001287489.1:c.*50C>A	NP_001274418.1:n.*50C>A
NM_004802.3:c.*248C>A	NP_004793.2:n.*248C>A
NM_194248.2:c.*248C>A	NP_919224.1:n.*248C>A
NM_194322.2:c.*248C>A	NP_919303.1:n.*248C>A
NM_194323.2:c.*50C>A	NP_919304.1:n.*50C>A
XM_005264644.2:c.6029C>A	XP_005264701.1:n.6029C>A
XM_011533185.1:c.6089C>A	XP_011531487.1:n.6089C>A
NM_001287489.2:c.*50C>A	NP_001274418.1:n.*50C>A
NM_004802.4:c.*248C>A	NP_004793.2:n.*248C>A
NM_194248.3:c.*248C>A MANE Select	NP_919224.1:n.*248C>A
NM_194322.3:c.*248C>A	NP_919303.1:n.*248C>A
NM_194323.3:c.*50C>A MANE Plus Clinical	NP_919304.1:n.*50C>A