Canonical Allele Identifier: CA379811486
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553430T>G , CM000673.2:g.17553430T>G GRCh38
NC_000011.9:g.17574977T>G , CM000673.1:g.17574977T>G GRCh37
NC_000011.8:g.17531553T>G NCBI36
NG_033191.1:g.11058T>G
NG_033191.2:g.11058T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.487T>G ENSP00000382323.2:p.Phe163Val
ENST00000399397.6:c.451T>G MANE Select ENSP00000382329.2:p.Phe151Val
ENST00000399391.6:c.487T>G ENSP00000382323.2:p.Phe163Val
ENST00000399397.5:c.451T>G ENSP00000382329.2:p.Phe151Val
ENST00000428619.1:c.268T>G ENSP00000399057.2:p.Phe90Val
ENST00000498332.5:n.357T>G
NM_001277269.1:c.487T>G NP_001264198.1:p.Phe163Val
NM_001292063.1:c.451T>G NP_001278992.1:p.Phe151Val
NM_001277269.2:c.487T>G NP_001264198.1:p.Phe163Val
NM_001292063.2:c.451T>G MANE Select NP_001278992.1:p.Phe151Val