Canonical Allele Identifier: CA142734
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 48166
dbSNP Id: rs181805996
gnomAD v2: 2-26707353-A-T
gnomAD v3: 2-26484485-A-T
gnomAD v4: 2-26484485-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26484485A>T , CM000664.2:g.26484485A>T GRCh38
NC_000002.11:g.26707353A>T , CM000664.1:g.26707353A>T GRCh37
NC_000002.10:g.26560857A>T NCBI36
NG_009937.1:g.79214T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1194T>A MANE Select ENSP00000272371.2:p.Asp398Glu
ENST00000272371.6:c.1194T>A ENSP00000272371.2:p.Asp398Glu
ENST00000403946.7:c.1194T>A ENSP00000385255.3:p.Asp398Glu
NM_001287489.1:c.1194T>A NP_001274418.1:p.Asp398Glu
NM_194248.2:c.1194T>A NP_919224.1:p.Asp398Glu
XM_005264644.2:c.1239T>A XP_005264701.1:p.Asp413Glu
XM_011533185.1:c.1239T>A XP_011531487.1:p.Asp413Glu
XM_017005338.1:c.1194T>A XP_016860827.1:p.Asp398Glu
NM_001287489.2:c.1194T>A NP_001274418.1:p.Asp398Glu
NM_194248.3:c.1194T>A MANE Select NP_919224.1:p.Asp398Glu