Canonical Allele Identifier: CA379811442
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553422T>G , CM000673.2:g.17553422T>G GRCh38
NC_000011.9:g.17574969T>G , CM000673.1:g.17574969T>G GRCh37
NC_000011.8:g.17531545T>G NCBI36
NG_033191.1:g.11050T>G
NG_033191.2:g.11050T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.479T>G ENSP00000382323.2:p.Val160Gly
ENST00000399397.6:c.443T>G MANE Select ENSP00000382329.2:p.Val148Gly
ENST00000399391.6:c.479T>G ENSP00000382323.2:p.Val160Gly
ENST00000399397.5:c.443T>G ENSP00000382329.2:p.Val148Gly
ENST00000428619.1:c.260T>G ENSP00000399057.2:p.Val87Gly
ENST00000498332.5:n.349T>G
NM_001277269.1:c.479T>G NP_001264198.1:p.Val160Gly
NM_001292063.1:c.443T>G NP_001278992.1:p.Val148Gly
NM_001277269.2:c.479T>G NP_001264198.1:p.Val160Gly
NM_001292063.2:c.443T>G MANE Select NP_001278992.1:p.Val148Gly