Canonical Allele Identifier: CA379811712
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553469T>C , CM000673.2:g.17553469T>C GRCh38
NC_000011.9:g.17575016T>C , CM000673.1:g.17575016T>C GRCh37
NC_000011.8:g.17531592T>C NCBI36
NG_033191.1:g.11097T>C
NG_033191.2:g.11097T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.526T>C ENSP00000382323.2:p.Tyr176His
ENST00000399397.6:c.490T>C MANE Select ENSP00000382329.2:p.Tyr164His
ENST00000399391.6:c.526T>C ENSP00000382323.2:p.Tyr176His
ENST00000399397.5:c.490T>C ENSP00000382329.2:p.Tyr164His
ENST00000498332.5:n.396T>C
NM_001277269.1:c.526T>C NP_001264198.1:p.Tyr176His
NM_001292063.1:c.490T>C NP_001278992.1:p.Tyr164His
NM_001277269.2:c.526T>C NP_001264198.1:p.Tyr176His
NM_001292063.2:c.490T>C MANE Select NP_001278992.1:p.Tyr164His