Canonical Allele Identifier: CA1563273
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2871794
ClinVar RCV Id: RCV003698724
dbSNP Id: rs575722396
gnomAD v2: 2-26690319-C-T
gnomAD v3: 2-26467451-C-T
gnomAD v4: 2-26467451-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467451C>T , CM000664.2:g.26467451C>T GRCh38
NC_000002.11:g.26690319C>T , CM000664.1:g.26690319C>T GRCh37
NC_000002.10:g.26543823C>T NCBI36
NG_009937.1:g.96248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4141G>A MANE Select ENSP00000272371.2:p.Glu1381Lys
ENST00000339598.8:c.1840G>A MANE Plus Clinical ENSP00000344521.3:p.Glu614Lys
ENST00000402415.8:c.1900G>A ENSP00000383906.4:p.Glu634Lys
ENST00000272371.6:c.4141G>A ENSP00000272371.2:p.Glu1381Lys
ENST00000338581.10:c.1840G>A ENSP00000345137.6:p.Glu614Lys
ENST00000339598.7:c.1840G>A ENSP00000344521.3:p.Glu614Lys
ENST00000402415.7:c.2071G>A ENSP00000383906.3:p.Glu691Lys
ENST00000403946.7:c.4141G>A ENSP00000385255.3:p.Glu1381Lys
NM_001287489.1:c.4141G>A NP_001274418.1:p.Glu1381Lys
NM_004802.3:c.1840G>A NP_004793.2:p.Glu614Lys
NM_194248.2:c.4141G>A NP_919224.1:p.Glu1381Lys
NM_194322.2:c.2071G>A NP_919303.1:p.Glu691Lys
NM_194323.2:c.1840G>A NP_919304.1:p.Glu614Lys
XM_005264644.2:c.4126G>A XP_005264701.1:p.Glu1376Lys
XM_011533185.1:c.4186G>A XP_011531487.1:p.Glu1396Lys
XM_017005338.1:c.4081G>A XP_016860827.1:p.Glu1361Lys
NM_001287489.2:c.4141G>A NP_001274418.1:p.Glu1381Lys
NM_004802.4:c.1840G>A NP_004793.2:p.Glu614Lys
NM_194248.3:c.4141G>A MANE Select NP_919224.1:p.Glu1381Lys
NM_194322.3:c.2071G>A NP_919303.1:p.Glu691Lys
NM_194323.3:c.1840G>A MANE Plus Clinical NP_919304.1:p.Glu614Lys