Canonical Allele Identifier: CA218489735
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 496812
ClinVar RCV Id: RCV003105978
dbSNP Id: rs574007567
gnomAD v2: 11-17574667-C-G
gnomAD v3: 11-17553120-C-G
gnomAD v4: 11-17553120-C-G
MyVariant Identifiers: chr11:g.17574667C>G (hg19) chr11:g.17553120C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553120C>G , CM000673.2:g.17553120C>G GRCh38
NC_000011.9:g.17574667C>G , CM000673.1:g.17574667C>G GRCh37
NC_000011.8:g.17531243C>G NCBI36
NG_033191.1:g.10748C>G
NG_033191.2:g.10748C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.330C>G ENSP00000382323.2:p.Tyr110Ter
ENST00000399397.6:c.294C>G MANE Select ENSP00000382329.2:p.Tyr98Ter
ENST00000399391.6:c.330C>G ENSP00000382323.2:p.Tyr110Ter
ENST00000399397.5:c.294C>G ENSP00000382329.2:p.Tyr98Ter
ENST00000428619.1:c.111C>G ENSP00000399057.2:p.Tyr37Ter
ENST00000498332.5:n.200C>G
NM_001277269.1:c.330C>G NP_001264198.1:p.Tyr110Ter
NM_001292063.1:c.294C>G NP_001278992.1:p.Tyr98Ter
NM_001277269.2:c.330C>G NP_001264198.1:p.Tyr110Ter
NM_001292063.2:c.294C>G MANE Select NP_001278992.1:p.Tyr98Ter
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