Canonical Allele Identifier: CA1955233176
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1853596868
gnomAD v4: 11-17612869-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612869G>A , CM000673.2:g.17612869G>A GRCh38
NC_000011.9:g.17634416G>A , CM000673.1:g.17634416G>A GRCh37
NC_000011.8:g.17590992G>A NCBI36
NG_033191.1:g.70497G>A
NG_033191.2:g.70497G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6474+104G>A ENSP00000382323.2:n.6474+104G>A
ENST00000399397.6:c.6438+104G>A MANE Select ENSP00000382329.2:n.6438+104G>A
ENST00000342528.2:c.3492+104G>A ENSP00000341666.2:n.3492+104G>A
ENST00000399391.6:c.6474+104G>A ENSP00000382323.2:n.6474+104G>A
ENST00000399397.5:c.6438+104G>A ENSP00000382329.2:n.6438+104G>A
NM_001277269.1:c.6474+104G>A NP_001264198.1:n.6474+104G>A
NM_001292063.1:c.6438+104G>A NP_001278992.1:n.6438+104G>A
NM_001277269.2:c.6474+104G>A NP_001264198.1:n.6474+104G>A
NM_001292063.2:c.6438+104G>A MANE Select NP_001278992.1:n.6438+104G>A
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