Canonical Allele Identifier: CA379804399
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612694A>T , CM000673.2:g.17612694A>T GRCh38
NC_000011.9:g.17634241A>T , CM000673.1:g.17634241A>T GRCh37
NC_000011.8:g.17590817A>T NCBI36
NG_033191.1:g.70322A>T
NG_033191.2:g.70322A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6403A>T ENSP00000382323.2:p.Ile2135Phe
ENST00000399397.6:c.6367A>T MANE Select ENSP00000382329.2:p.Ile2123Phe
ENST00000342528.2:c.3421A>T ENSP00000341666.2:p.Ile1141Phe
ENST00000399391.6:c.6403A>T ENSP00000382323.2:p.Ile2135Phe
ENST00000399397.5:c.6367A>T ENSP00000382329.2:p.Ile2123Phe
NM_001277269.1:c.6403A>T NP_001264198.1:p.Ile2135Phe
NM_001292063.1:c.6367A>T NP_001278992.1:p.Ile2123Phe
NM_001277269.2:c.6403A>T NP_001264198.1:p.Ile2135Phe
NM_001292063.2:c.6367A>T MANE Select NP_001278992.1:p.Ile2123Phe