Canonical Allele Identifier: CA44405116

Gene: OTOF

Linked Data

• dbSNP Id: rs1024016041
• gnomAD v2: 2-26680959-G-A
• gnomAD v3: 2-26458091-G-A
• gnomAD v4: 2-26458091-G-A
• MyVariant Identifiers: chr2:g.26680959G>A (hg19) ; chr2:g.26458091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26458091G>A , CM000664.2:g.26458091G>A	GRCh38
NC_000002.11:g.26680959G>A , CM000664.1:g.26680959G>A	GRCh37
NC_000002.10:g.26534463G>A	NCBI36
NG_009937.1:g.105608C>T
NG_042824.1:g.61180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.*147C>T MANE Select	ENSP00000272371.2:n.*147C>T
ENST00000339598.8:c.3642C>T MANE Plus Clinical	ENSP00000344521.3:p.Leu1214=
ENST00000402415.8:c.*147C>T	ENSP00000383906.4:n.*147C>T
ENST00000272371.6:c.*147C>T	ENSP00000272371.2:n.*147C>T
ENST00000338581.10:c.*147C>T	ENSP00000345137.6:n.*147C>T
ENST00000339598.7:c.3642C>T	ENSP00000344521.3:p.Leu1214=
ENST00000402415.7:c.*147C>T	ENSP00000383906.3:n.*147C>T
ENST00000403946.7:c.5943C>T	ENSP00000385255.3:p.Leu1981=
NM_001287489.1:c.5943C>T	NP_001274418.1:p.Leu1981=
NM_004802.3:c.*147C>T	NP_004793.2:n.*147C>T
NM_194248.2:c.*147C>T	NP_919224.1:n.*147C>T
NM_194322.2:c.*147C>T	NP_919303.1:n.*147C>T
NM_194323.2:c.3642C>T	NP_919304.1:p.Leu1214=
XM_005264644.2:c.5928C>T	XP_005264701.1:p.Leu1976=
XM_011533185.1:c.5988C>T	XP_011531487.1:p.Leu1996=
NM_001287489.2:c.5943C>T	NP_001274418.1:p.Leu1981=
NM_004802.4:c.*147C>T	NP_004793.2:n.*147C>T
NM_194248.3:c.*147C>T MANE Select	NP_919224.1:n.*147C>T
NM_194322.3:c.*147C>T	NP_919303.1:n.*147C>T
NM_194323.3:c.3642C>T MANE Plus Clinical	NP_919304.1:p.Leu1214=