Canonical Allele Identifier: CA2612690346
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17635260-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635260G>A , CM000673.2:g.17635260G>A GRCh38
NC_000011.9:g.17656807G>A , CM000673.1:g.17656807G>A GRCh37
NC_000011.8:g.17613383G>A NCBI36
NG_033191.1:g.92888G>A
NG_033191.2:g.92888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7729+73G>A ENSP00000382323.2:n.7729+73G>A
ENST00000399397.6:c.7693+73G>A MANE Select ENSP00000382329.2:n.7693+73G>A
ENST00000342528.2:c.4322-350G>A ENSP00000341666.2:n.4322-350G>A
ENST00000399391.6:c.7729+73G>A ENSP00000382323.2:n.7729+73G>A
ENST00000399397.5:c.7693+73G>A ENSP00000382329.2:n.7693+73G>A
NM_001277269.1:c.7729+73G>A NP_001264198.1:n.7729+73G>A
NM_001292063.1:c.7693+73G>A NP_001278992.1:n.7693+73G>A
NM_001277269.2:c.7729+73G>A NP_001264198.1:n.7729+73G>A
NM_001292063.2:c.7693+73G>A MANE Select NP_001278992.1:n.7693+73G>A
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