Canonical Allele Identifier: CA379786438
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642143T>A , CM000673.2:g.17642143T>A GRCh38
NC_000011.9:g.17663690T>A , CM000673.1:g.17663690T>A GRCh37
NC_000011.8:g.17620266T>A NCBI36
NG_033191.1:g.99771T>A
NG_033191.2:g.99771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8348T>A ENSP00000382323.2:p.Ile2783Asn
ENST00000399397.6:c.8312T>A MANE Select ENSP00000382329.2:p.Ile2771Asn
ENST00000399391.6:c.8348T>A ENSP00000382323.2:p.Ile2783Asn
ENST00000399397.5:c.8312T>A ENSP00000382329.2:p.Ile2771Asn
NM_001277269.1:c.8348T>A NP_001264198.1:p.Ile2783Asn
NM_001292063.1:c.8312T>A NP_001278992.1:p.Ile2771Asn
NM_001277269.2:c.8348T>A NP_001264198.1:p.Ile2783Asn
NM_001292063.2:c.8312T>A MANE Select NP_001278992.1:p.Ile2771Asn