Canonical Allele Identifier: CA379787028
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642197T>A , CM000673.2:g.17642197T>A GRCh38
NC_000011.9:g.17663744T>A , CM000673.1:g.17663744T>A GRCh37
NC_000011.8:g.17620320T>A NCBI36
NG_033191.1:g.99825T>A
NG_033191.2:g.99825T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8402T>A ENSP00000382323.2:p.Val2801Asp
ENST00000399397.6:c.8366T>A MANE Select ENSP00000382329.2:p.Val2789Asp
ENST00000399391.6:c.8402T>A ENSP00000382323.2:p.Val2801Asp
ENST00000399397.5:c.8366T>A ENSP00000382329.2:p.Val2789Asp
NM_001277269.1:c.8402T>A NP_001264198.1:p.Val2801Asp
NM_001292063.1:c.8366T>A NP_001278992.1:p.Val2789Asp
NM_001277269.2:c.8402T>A NP_001264198.1:p.Val2801Asp
NM_001292063.2:c.8366T>A MANE Select NP_001278992.1:p.Val2789Asp