Canonical Allele Identifier: CA346131768
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461909G>C , CM000664.2:g.26461909G>C GRCh38
NC_000002.11:g.26684777G>C , CM000664.1:g.26684777G>C GRCh37
NC_000002.10:g.26538281G>C NCBI36
NG_009937.1:g.101790C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5320C>G MANE Select ENSP00000272371.2:p.Gln1774Glu
ENST00000339598.8:c.3019C>G MANE Plus Clinical ENSP00000344521.3:p.Gln1007Glu
ENST00000402415.8:c.3079C>G ENSP00000383906.4:p.Gln1027Glu
ENST00000272371.6:c.5320C>G ENSP00000272371.2:p.Gln1774Glu
ENST00000338581.10:c.3019C>G ENSP00000345137.6:p.Gln1007Glu
ENST00000339598.7:c.3019C>G ENSP00000344521.3:p.Gln1007Glu
ENST00000402415.7:c.3250C>G ENSP00000383906.3:p.Gln1084Glu
ENST00000403946.7:c.5320C>G ENSP00000385255.3:p.Gln1774Glu
NM_001287489.1:c.5320C>G NP_001274418.1:p.Gln1774Glu
NM_004802.3:c.3019C>G NP_004793.2:p.Gln1007Glu
NM_194248.2:c.5320C>G NP_919224.1:p.Gln1774Glu
NM_194322.2:c.3250C>G NP_919303.1:p.Gln1084Glu
NM_194323.2:c.3019C>G NP_919304.1:p.Gln1007Glu
XM_005264644.2:c.5305C>G XP_005264701.1:p.Gln1769Glu
XM_011533185.1:c.5365C>G XP_011531487.1:p.Gln1789Glu
XM_017005338.1:c.5260C>G XP_016860827.1:p.Gln1754Glu
NM_001287489.2:c.5320C>G NP_001274418.1:p.Gln1774Glu
NM_004802.4:c.3019C>G NP_004793.2:p.Gln1007Glu
NM_194248.3:c.5320C>G MANE Select NP_919224.1:p.Gln1774Glu
NM_194322.3:c.3250C>G NP_919303.1:p.Gln1084Glu
NM_194323.3:c.3019C>G MANE Plus Clinical NP_919304.1:p.Gln1007Glu