Canonical Allele Identifier: CA346112378
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1558482554
gnomAD v3: 2-26475916-C-G
gnomAD v4: 2-26475916-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475916C>G , CM000664.2:g.26475916C>G GRCh38
NC_000002.11:g.26698784C>G , CM000664.1:g.26698784C>G GRCh37
NC_000002.10:g.26552288C>G NCBI36
NG_009937.1:g.87783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2989G>C MANE Select ENSP00000272371.2:p.Glu997Gln
ENST00000339598.8:c.748G>C MANE Plus Clinical ENSP00000344521.3:p.Glu250Gln
ENST00000402415.8:c.748G>C ENSP00000383906.4:p.Glu250Gln
ENST00000272371.6:c.2989G>C ENSP00000272371.2:p.Glu997Gln
ENST00000338581.10:c.748G>C ENSP00000345137.6:p.Glu250Gln
ENST00000339598.7:c.748G>C ENSP00000344521.3:p.Glu250Gln
ENST00000402415.7:c.919G>C ENSP00000383906.3:p.Glu307Gln
ENST00000403946.7:c.2989G>C ENSP00000385255.3:p.Glu997Gln
NM_001287489.1:c.2989G>C NP_001274418.1:p.Glu997Gln
NM_004802.3:c.748G>C NP_004793.2:p.Glu250Gln
NM_194248.2:c.2989G>C NP_919224.1:p.Glu997Gln
NM_194322.2:c.919G>C NP_919303.1:p.Glu307Gln
NM_194323.2:c.748G>C NP_919304.1:p.Glu250Gln
XM_005264644.2:c.3034G>C XP_005264701.1:p.Glu1012Gln
XM_011533185.1:c.3034G>C XP_011531487.1:p.Glu1012Gln
XM_017005338.1:c.2989G>C XP_016860827.1:p.Glu997Gln
NM_001287489.2:c.2989G>C NP_001274418.1:p.Glu997Gln
NM_004802.4:c.748G>C NP_004793.2:p.Glu250Gln
NM_194248.3:c.2989G>C MANE Select NP_919224.1:p.Glu997Gln
NM_194322.3:c.919G>C NP_919303.1:p.Glu307Gln
NM_194323.3:c.748G>C MANE Plus Clinical NP_919304.1:p.Glu250Gln