Canonical Allele Identifier: CA177558
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 164867
dbSNP Id: rs551919295
gnomAD v2: 2-26700584-T-C
gnomAD v3: 2-26477716-T-C
gnomAD v4: 2-26477716-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477716T>C , CM000664.2:g.26477716T>C GRCh38
NC_000002.11:g.26700584T>C , CM000664.1:g.26700584T>C GRCh37
NC_000002.10:g.26554088T>C NCBI36
NG_009937.1:g.85983A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2248A>G MANE Select ENSP00000272371.2:p.Lys750Glu
ENST00000339598.8:c.7A>G MANE Plus Clinical ENSP00000344521.3:p.Lys3Glu
ENST00000402415.8:c.7A>G ENSP00000383906.4:p.Lys3Glu
ENST00000272371.6:c.2248A>G ENSP00000272371.2:p.Lys750Glu
ENST00000338581.10:c.7A>G ENSP00000345137.6:p.Lys3Glu
ENST00000339598.7:c.7A>G ENSP00000344521.3:p.Lys3Glu
ENST00000402415.7:c.178A>G ENSP00000383906.3:p.Lys60Glu
ENST00000403946.7:c.2248A>G ENSP00000385255.3:p.Lys750Glu
NM_001287489.1:c.2248A>G NP_001274418.1:p.Lys750Glu
NM_004802.3:c.7A>G NP_004793.2:p.Lys3Glu
NM_194248.2:c.2248A>G NP_919224.1:p.Lys750Glu
NM_194322.2:c.178A>G NP_919303.1:p.Lys60Glu
NM_194323.2:c.7A>G NP_919304.1:p.Lys3Glu
XM_005264644.2:c.2293A>G XP_005264701.1:p.Lys765Glu
XM_011533185.1:c.2293A>G XP_011531487.1:p.Lys765Glu
XM_017005338.1:c.2248A>G XP_016860827.1:p.Lys750Glu
NM_001287489.2:c.2248A>G NP_001274418.1:p.Lys750Glu
NM_004802.4:c.7A>G NP_004793.2:p.Lys3Glu
NM_194248.3:c.2248A>G MANE Select NP_919224.1:p.Lys750Glu
NM_194322.3:c.178A>G NP_919303.1:p.Lys60Glu
NM_194323.3:c.7A>G MANE Plus Clinical NP_919304.1:p.Lys3Glu