Canonical Allele Identifier: CA262041
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 48163
dbSNP Id: rs111033341
gnomAD v2: 2-26712077-A-C
gnomAD v3: 2-26489209-A-C
gnomAD v4: 2-26489209-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26489209A>C , CM000664.2:g.26489209A>C GRCh38
NC_000002.11:g.26712077A>C , CM000664.1:g.26712077A>C GRCh37
NC_000002.10:g.26565581A>C NCBI36
NG_009937.1:g.74490T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1045+2T>G MANE Select ENSP00000272371.2:n.1045+2T>G
ENST00000272371.6:c.1045+2T>G ENSP00000272371.2:n.1045+2T>G
ENST00000403946.7:c.1045+2T>G ENSP00000385255.3:n.1045+2T>G
NM_001287489.1:c.1045+2T>G NP_001274418.1:n.1045+2T>G
NM_194248.2:c.1045+2T>G NP_919224.1:n.1045+2T>G
XM_005264644.2:c.1090+2T>G XP_005264701.1:n.1090+2T>G
XM_011533185.1:c.1090+2T>G XP_011531487.1:n.1090+2T>G
XM_017005338.1:c.1045+2T>G XP_016860827.1:n.1045+2T>G
NM_001287489.2:c.1045+2T>G NP_001274418.1:n.1045+2T>G
NM_194248.3:c.1045+2T>G MANE Select NP_919224.1:n.1045+2T>G