Canonical Allele Identifier: CA379812767
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634924T>G , CM000673.2:g.17634924T>G GRCh38
NC_000011.9:g.17656471T>G , CM000673.1:g.17656471T>G GRCh37
NC_000011.8:g.17613047T>G NCBI36
NG_033191.1:g.92552T>G
NG_033191.2:g.92552T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7597T>G ENSP00000382323.2:p.Ser2533Ala
ENST00000399397.6:c.7561T>G MANE Select ENSP00000382329.2:p.Ser2521Ala
ENST00000342528.2:c.4322-686T>G ENSP00000341666.2:n.4322-686T>G
ENST00000399391.6:c.7597T>G ENSP00000382323.2:p.Ser2533Ala
ENST00000399397.5:c.7561T>G ENSP00000382329.2:p.Ser2521Ala
NM_001277269.1:c.7597T>G NP_001264198.1:p.Ser2533Ala
NM_001292063.1:c.7561T>G NP_001278992.1:p.Ser2521Ala
NM_001277269.2:c.7597T>G NP_001264198.1:p.Ser2533Ala
NM_001292063.2:c.7561T>G MANE Select NP_001278992.1:p.Ser2521Ala