Canonical Allele Identifier: CA379804246
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612649T>G , CM000673.2:g.17612649T>G GRCh38
NC_000011.9:g.17634196T>G , CM000673.1:g.17634196T>G GRCh37
NC_000011.8:g.17590772T>G NCBI36
NG_033191.1:g.70277T>G
NG_033191.2:g.70277T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6358T>G ENSP00000382323.2:p.Phe2120Val
ENST00000399397.6:c.6322T>G MANE Select ENSP00000382329.2:p.Phe2108Val
ENST00000342528.2:c.3376T>G ENSP00000341666.2:p.Phe1126Val
ENST00000399391.6:c.6358T>G ENSP00000382323.2:p.Phe2120Val
ENST00000399397.5:c.6322T>G ENSP00000382329.2:p.Phe2108Val
NM_001277269.1:c.6358T>G NP_001264198.1:p.Phe2120Val
NM_001292063.1:c.6322T>G NP_001278992.1:p.Phe2108Val
NM_001277269.2:c.6358T>G NP_001264198.1:p.Phe2120Val
NM_001292063.2:c.6322T>G MANE Select NP_001278992.1:p.Phe2108Val