Canonical Allele Identifier: CA346137640
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26468468G>C , CM000664.2:g.26468468G>C GRCh38
NC_000002.11:g.26691336G>C , CM000664.1:g.26691336G>C GRCh37
NC_000002.10:g.26544840G>C NCBI36
NG_009937.1:g.95231C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4030C>G MANE Select ENSP00000272371.2:p.Arg1344Gly
ENST00000339598.8:c.1729C>G MANE Plus Clinical ENSP00000344521.3:p.Arg577Gly
ENST00000402415.8:c.1789C>G ENSP00000383906.4:p.Arg597Gly
ENST00000272371.6:c.4030C>G ENSP00000272371.2:p.Arg1344Gly
ENST00000338581.10:c.1729C>G ENSP00000345137.6:p.Arg577Gly
ENST00000339598.7:c.1729C>G ENSP00000344521.3:p.Arg577Gly
ENST00000402415.7:c.1960C>G ENSP00000383906.3:p.Arg654Gly
ENST00000403946.7:c.4030C>G ENSP00000385255.3:p.Arg1344Gly
NM_001287489.1:c.4030C>G NP_001274418.1:p.Arg1344Gly
NM_004802.3:c.1729C>G NP_004793.2:p.Arg577Gly
NM_194248.2:c.4030C>G NP_919224.1:p.Arg1344Gly
NM_194322.2:c.1960C>G NP_919303.1:p.Arg654Gly
NM_194323.2:c.1729C>G NP_919304.1:p.Arg577Gly
XM_005264644.2:c.4015C>G XP_005264701.1:p.Arg1339Gly
XM_011533185.1:c.4075C>G XP_011531487.1:p.Arg1359Gly
XM_017005338.1:c.3970C>G XP_016860827.1:p.Arg1324Gly
NM_001287489.2:c.4030C>G NP_001274418.1:p.Arg1344Gly
NM_004802.4:c.1729C>G NP_004793.2:p.Arg577Gly
NM_194248.3:c.4030C>G MANE Select NP_919224.1:p.Arg1344Gly
NM_194322.3:c.1960C>G NP_919303.1:p.Arg654Gly
NM_194323.3:c.1729C>G MANE Plus Clinical NP_919304.1:p.Arg577Gly