Canonical Allele Identifier: CA379813120
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635183C>G , CM000673.2:g.17635183C>G GRCh38
NC_000011.9:g.17656730C>G , CM000673.1:g.17656730C>G GRCh37
NC_000011.8:g.17613306C>G NCBI36
NG_033191.1:g.92811C>G
NG_033191.2:g.92811C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7725C>G ENSP00000382323.2:p.Phe2575Leu
ENST00000399397.6:c.7689C>G MANE Select ENSP00000382329.2:p.Phe2563Leu
ENST00000342528.2:c.4322-427C>G ENSP00000341666.2:n.4322-427C>G
ENST00000399391.6:c.7725C>G ENSP00000382323.2:p.Phe2575Leu
ENST00000399397.5:c.7689C>G ENSP00000382329.2:p.Phe2563Leu
NM_001277269.1:c.7725C>G NP_001264198.1:p.Phe2575Leu
NM_001292063.1:c.7689C>G NP_001278992.1:p.Phe2563Leu
NM_001277269.2:c.7725C>G NP_001264198.1:p.Phe2575Leu
NM_001292063.2:c.7689C>G MANE Select NP_001278992.1:p.Phe2563Leu