Canonical Allele Identifier: CA379813134
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635189T>G , CM000673.2:g.17635189T>G GRCh38
NC_000011.9:g.17656736T>G , CM000673.1:g.17656736T>G GRCh37
NC_000011.8:g.17613312T>G NCBI36
NG_033191.1:g.92817T>G
NG_033191.2:g.92817T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7729+2T>G ENSP00000382323.2:n.7729+2T>G
ENST00000399397.6:c.7693+2T>G MANE Select ENSP00000382329.2:n.7693+2T>G
ENST00000342528.2:c.4322-421T>G ENSP00000341666.2:n.4322-421T>G
ENST00000399391.6:c.7729+2T>G ENSP00000382323.2:n.7729+2T>G
ENST00000399397.5:c.7693+2T>G ENSP00000382329.2:n.7693+2T>G
NM_001277269.1:c.7729+2T>G NP_001264198.1:n.7729+2T>G
NM_001292063.1:c.7693+2T>G NP_001278992.1:n.7693+2T>G
NM_001277269.2:c.7729+2T>G NP_001264198.1:n.7729+2T>G
NM_001292063.2:c.7693+2T>G MANE Select NP_001278992.1:n.7693+2T>G