Canonical Allele Identifier: CA117973
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6143
dbSNP Id: rs80356586
gnomAD v2: 2-26705309-A-G
gnomAD v3: 2-26482441-A-G
gnomAD v4: 2-26482441-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482441A>G , CM000664.2:g.26482441A>G GRCh38
NC_000002.11:g.26705309A>G , CM000664.1:g.26705309A>G GRCh37
NC_000002.10:g.26558813A>G NCBI36
NG_009937.1:g.81258T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1544T>C MANE Select ENSP00000272371.2:p.Ile515Thr
ENST00000272371.6:c.1544T>C ENSP00000272371.2:p.Ile515Thr
ENST00000403946.7:c.1544T>C ENSP00000385255.3:p.Ile515Thr
NM_001287489.1:c.1544T>C NP_001274418.1:p.Ile515Thr
NM_194248.2:c.1544T>C NP_919224.1:p.Ile515Thr
XM_005264644.2:c.1589T>C XP_005264701.1:p.Ile530Thr
XM_011533185.1:c.1589T>C XP_011531487.1:p.Ile530Thr
XM_017005338.1:c.1544T>C XP_016860827.1:p.Ile515Thr
NM_001287489.2:c.1544T>C NP_001274418.1:p.Ile515Thr
NM_194248.3:c.1544T>C MANE Select NP_919224.1:p.Ile515Thr