Canonical Allele Identifier: CA44398752
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs913751961
gnomAD v2: 2-26700647-G-C
gnomAD v3: 2-26477779-G-C
gnomAD v4: 2-26477779-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477779G>C , CM000664.2:g.26477779G>C GRCh38
NC_000002.11:g.26700647G>C , CM000664.1:g.26700647G>C GRCh37
NC_000002.10:g.26554151G>C NCBI36
NG_009937.1:g.85920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2215-30C>G MANE Select ENSP00000272371.2:n.2215-30C>G
ENST00000339598.8:c.-27-30C>G MANE Plus Clinical ENSP00000344521.3:n.-27-30C>G
ENST00000402415.8:c.-57C>G ENSP00000383906.4:n.-57C>G
ENST00000272371.6:c.2215-30C>G ENSP00000272371.2:n.2215-30C>G
ENST00000338581.10:c.-27-30C>G ENSP00000345137.6:n.-27-30C>G
ENST00000339598.7:c.-27-30C>G ENSP00000344521.3:n.-27-30C>G
ENST00000402415.7:c.115C>G ENSP00000383906.3:p.Pro39Ala
ENST00000403946.7:c.2215-30C>G ENSP00000385255.3:n.2215-30C>G
NM_001287489.1:c.2215-30C>G NP_001274418.1:n.2215-30C>G
NM_004802.3:c.-27-30C>G NP_004793.2:n.-27-30C>G
NM_194248.2:c.2215-30C>G NP_919224.1:n.2215-30C>G
NM_194322.2:c.115C>G NP_919303.1:p.Pro39Ala
NM_194323.2:c.-27-30C>G NP_919304.1:n.-27-30C>G
XM_005264644.2:c.2260-30C>G XP_005264701.1:n.2260-30C>G
XM_011533185.1:c.2260-30C>G XP_011531487.1:n.2260-30C>G
XM_017005338.1:c.2215-30C>G XP_016860827.1:n.2215-30C>G
NM_001287489.2:c.2215-30C>G NP_001274418.1:n.2215-30C>G
NM_004802.4:c.-27-30C>G NP_004793.2:n.-27-30C>G
NM_194248.3:c.2215-30C>G MANE Select NP_919224.1:n.2215-30C>G
NM_194322.3:c.115C>G NP_919303.1:p.Pro39Ala
NM_194323.3:c.-27-30C>G MANE Plus Clinical NP_919304.1:n.-27-30C>G