Canonical Allele Identifier: CA1955197888
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1851995494
gnomAD v4: 11-17553657-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553657G>A , CM000673.2:g.17553657G>A GRCh38
NC_000011.9:g.17575204G>A , CM000673.1:g.17575204G>A GRCh37
NC_000011.8:g.17531780G>A NCBI36
NG_033191.1:g.11285G>A
NG_033191.2:g.11285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+138G>A ENSP00000382323.2:n.576+138G>A
ENST00000399397.6:c.540+138G>A MANE Select ENSP00000382329.2:n.540+138G>A
ENST00000399391.6:c.576+138G>A ENSP00000382323.2:n.576+138G>A
ENST00000399397.5:c.540+138G>A ENSP00000382329.2:n.540+138G>A
ENST00000498332.5:n.446+138G>A
NM_001277269.1:c.576+138G>A NP_001264198.1:n.576+138G>A
NM_001292063.1:c.540+138G>A NP_001278992.1:n.540+138G>A
NM_001277269.2:c.576+138G>A NP_001264198.1:n.576+138G>A
NM_001292063.2:c.540+138G>A MANE Select NP_001278992.1:n.540+138G>A
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