Canonical Allele Identifier: CA935543132
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1851977246
gnomAD v3: 11-17553027-G-A
gnomAD v4: 11-17553027-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553027G>A , CM000673.2:g.17553027G>A GRCh38
NC_000011.9:g.17574574G>A , CM000673.1:g.17574574G>A GRCh37
NC_000011.8:g.17531150G>A NCBI36
NG_033191.1:g.10655G>A
NG_033191.2:g.10655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.329-92G>A ENSP00000382323.2:n.329-92G>A
ENST00000399397.6:c.293-92G>A MANE Select ENSP00000382329.2:n.293-92G>A
ENST00000399391.6:c.329-92G>A ENSP00000382323.2:n.329-92G>A
ENST00000399397.5:c.293-92G>A ENSP00000382329.2:n.293-92G>A
ENST00000428619.1:c.110-92G>A ENSP00000399057.2:n.110-92G>A
ENST00000498332.5:n.199-92G>A
NM_001277269.1:c.329-92G>A NP_001264198.1:n.329-92G>A
NM_001292063.1:c.293-92G>A NP_001278992.1:n.293-92G>A
NM_001277269.2:c.329-92G>A NP_001264198.1:n.329-92G>A
NM_001292063.2:c.293-92G>A MANE Select NP_001278992.1:n.293-92G>A
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