Canonical Allele Identifier: CA1564368
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 1916124
ClinVar RCV Id: RCV002594348
dbSNP Id: rs753273850
ExAC: 2:26707397 C / T
gnomAD v2: 2-26707397-C-T
gnomAD v4: 2-26484529-C-T
MyVariant Identifiers: chr2:g.26707397C>T (hg19) chr2:g.26484529C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26484529C>T , CM000664.2:g.26484529C>T GRCh38
NC_000002.11:g.26707397C>T , CM000664.1:g.26707397C>T GRCh37
NC_000002.10:g.26560901C>T NCBI36
NG_009937.1:g.79170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1150G>A MANE Select ENSP00000272371.2:p.Asp384Asn
ENST00000272371.6:c.1150G>A ENSP00000272371.2:p.Asp384Asn
ENST00000403946.7:c.1150G>A ENSP00000385255.3:p.Asp384Asn
NM_001287489.1:c.1150G>A NP_001274418.1:p.Asp384Asn
NM_194248.2:c.1150G>A NP_919224.1:p.Asp384Asn
XM_005264644.2:c.1195G>A XP_005264701.1:p.Asp399Asn
XM_011533185.1:c.1195G>A XP_011531487.1:p.Asp399Asn
XM_017005338.1:c.1150G>A XP_016860827.1:p.Asp384Asn
NM_001287489.2:c.1150G>A NP_001274418.1:p.Asp384Asn
NM_194248.3:c.1150G>A MANE Select NP_919224.1:p.Asp384Asn
Search 100 bp 5'
Search 100 bp 3'