Canonical Allele Identifier: CA379813113
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17656728T>A (hg19) chr11:g.17635181T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635181T>A , CM000673.2:g.17635181T>A GRCh38
NC_000011.9:g.17656728T>A , CM000673.1:g.17656728T>A GRCh37
NC_000011.8:g.17613304T>A NCBI36
NG_033191.1:g.92809T>A
NG_033191.2:g.92809T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7723T>A ENSP00000382323.2:p.Phe2575Ile
ENST00000399397.6:c.7687T>A MANE Select ENSP00000382329.2:p.Phe2563Ile
ENST00000342528.2:c.4322-429T>A ENSP00000341666.2:n.4322-429T>A
ENST00000399391.6:c.7723T>A ENSP00000382323.2:p.Phe2575Ile
ENST00000399397.5:c.7687T>A ENSP00000382329.2:p.Phe2563Ile
NM_001277269.1:c.7723T>A NP_001264198.1:p.Phe2575Ile
NM_001292063.1:c.7687T>A NP_001278992.1:p.Phe2563Ile
NM_001277269.2:c.7723T>A NP_001264198.1:p.Phe2575Ile
NM_001292063.2:c.7687T>A MANE Select NP_001278992.1:p.Phe2563Ile
Search 100 bp 5'
Search 100 bp 3'