Canonical Allele Identifier: CA346098622
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26470599-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26470599C>G , CM000664.2:g.26470599C>G GRCh38
NC_000002.11:g.26693467C>G , CM000664.1:g.26693467C>G GRCh37
NC_000002.10:g.26546971C>G NCBI36
NG_009937.1:g.93100G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.4017G>C MANE Select ENSP00000272371.2:p.Met1339Ile
ENST00000339598.8:c.1716G>C MANE Plus Clinical ENSP00000344521.3:p.Met572Ile
ENST00000402415.8:c.1776G>C ENSP00000383906.4:p.Met592Ile
ENST00000272371.6:c.4017G>C ENSP00000272371.2:p.Met1339Ile
ENST00000338581.10:c.1716G>C ENSP00000345137.6:p.Met572Ile
ENST00000339598.7:c.1716G>C ENSP00000344521.3:p.Met572Ile
ENST00000402415.7:c.1947G>C ENSP00000383906.3:p.Met649Ile
ENST00000403946.7:c.4017G>C ENSP00000385255.3:p.Met1339Ile
NM_001287489.1:c.4017G>C NP_001274418.1:p.Met1339Ile
NM_004802.3:c.1716G>C NP_004793.2:p.Met572Ile
NM_194248.2:c.4017G>C NP_919224.1:p.Met1339Ile
NM_194322.2:c.1947G>C NP_919303.1:p.Met649Ile
NM_194323.2:c.1716G>C NP_919304.1:p.Met572Ile
XM_005264644.2:c.4002G>C XP_005264701.1:p.Met1334Ile
XM_011533185.1:c.4062G>C XP_011531487.1:p.Met1354Ile
XM_017005338.1:c.3957G>C XP_016860827.1:p.Met1319Ile
NM_001287489.2:c.4017G>C NP_001274418.1:p.Met1339Ile
NM_004802.4:c.1716G>C NP_004793.2:p.Met572Ile
NM_194248.3:c.4017G>C MANE Select NP_919224.1:p.Met1339Ile
NM_194322.3:c.1947G>C NP_919303.1:p.Met649Ile
NM_194323.3:c.1716G>C MANE Plus Clinical NP_919304.1:p.Met572Ile