Canonical Allele Identifier: CA1563264
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 504657
dbSNP Id: rs148819838
gnomAD v2: 2-26690275-G-A
gnomAD v3: 2-26467407-G-A
gnomAD v4: 2-26467407-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467407G>A , CM000664.2:g.26467407G>A GRCh38
NC_000002.11:g.26690275G>A , CM000664.1:g.26690275G>A GRCh37
NC_000002.10:g.26543779G>A NCBI36
NG_009937.1:g.96292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4185C>T MANE Select ENSP00000272371.2:p.Ser1395=
ENST00000339598.8:c.1884C>T MANE Plus Clinical ENSP00000344521.3:p.Ser628=
ENST00000402415.8:c.1944C>T ENSP00000383906.4:p.Ser648=
ENST00000272371.6:c.4185C>T ENSP00000272371.2:p.Ser1395=
ENST00000338581.10:c.1884C>T ENSP00000345137.6:p.Ser628=
ENST00000339598.7:c.1884C>T ENSP00000344521.3:p.Ser628=
ENST00000402415.7:c.2115C>T ENSP00000383906.3:p.Ser705=
ENST00000403946.7:c.4185C>T ENSP00000385255.3:p.Ser1395=
NM_001287489.1:c.4185C>T NP_001274418.1:p.Ser1395=
NM_004802.3:c.1884C>T NP_004793.2:p.Ser628=
NM_194248.2:c.4185C>T NP_919224.1:p.Ser1395=
NM_194322.2:c.2115C>T NP_919303.1:p.Ser705=
NM_194323.2:c.1884C>T NP_919304.1:p.Ser628=
XM_005264644.2:c.4170C>T XP_005264701.1:p.Ser1390=
XM_011533185.1:c.4230C>T XP_011531487.1:p.Ser1410=
XM_017005338.1:c.4125C>T XP_016860827.1:p.Ser1375=
NM_001287489.2:c.4185C>T NP_001274418.1:p.Ser1395=
NM_004802.4:c.1884C>T NP_004793.2:p.Ser628=
NM_194248.3:c.4185C>T MANE Select NP_919224.1:p.Ser1395=
NM_194322.3:c.2115C>T NP_919303.1:p.Ser705=
NM_194323.3:c.1884C>T MANE Plus Clinical NP_919304.1:p.Ser628=