Canonical Allele Identifier: CA1563899
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 1910832
ClinVar RCV Id: RCV002589405
dbSNP Id: rs775183780
gnomAD v2: 2-26700126-G-A
gnomAD v3: 2-26477258-G-A
gnomAD v4: 2-26477258-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477258G>A , CM000664.2:g.26477258G>A GRCh38
NC_000002.11:g.26700126G>A , CM000664.1:g.26700126G>A GRCh37
NC_000002.10:g.26553630G>A NCBI36
NG_009937.1:g.86441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2437C>T MANE Select ENSP00000272371.2:p.Arg813Trp
ENST00000339598.8:c.196C>T MANE Plus Clinical ENSP00000344521.3:p.Arg66Trp
ENST00000402415.8:c.196C>T ENSP00000383906.4:p.Arg66Trp
ENST00000272371.6:c.2437C>T ENSP00000272371.2:p.Arg813Trp
ENST00000338581.10:c.196C>T ENSP00000345137.6:p.Arg66Trp
ENST00000339598.7:c.196C>T ENSP00000344521.3:p.Arg66Trp
ENST00000402415.7:c.367C>T ENSP00000383906.3:p.Arg123Trp
ENST00000403946.7:c.2437C>T ENSP00000385255.3:p.Arg813Trp
NM_001287489.1:c.2437C>T NP_001274418.1:p.Arg813Trp
NM_004802.3:c.196C>T NP_004793.2:p.Arg66Trp
NM_194248.2:c.2437C>T NP_919224.1:p.Arg813Trp
NM_194322.2:c.367C>T NP_919303.1:p.Arg123Trp
NM_194323.2:c.196C>T NP_919304.1:p.Arg66Trp
XM_005264644.2:c.2482C>T XP_005264701.1:p.Arg828Trp
XM_011533185.1:c.2482C>T XP_011531487.1:p.Arg828Trp
XM_017005338.1:c.2437C>T XP_016860827.1:p.Arg813Trp
NM_001287489.2:c.2437C>T NP_001274418.1:p.Arg813Trp
NM_004802.4:c.196C>T NP_004793.2:p.Arg66Trp
NM_194248.3:c.2437C>T MANE Select NP_919224.1:p.Arg813Trp
NM_194322.3:c.367C>T NP_919303.1:p.Arg123Trp
NM_194323.3:c.196C>T MANE Plus Clinical NP_919304.1:p.Arg66Trp