Canonical Allele Identifier: CA379813054
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17656701C>A (hg19) chr11:g.17635154C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635154C>A , CM000673.2:g.17635154C>A GRCh38
NC_000011.9:g.17656701C>A , CM000673.1:g.17656701C>A GRCh37
NC_000011.8:g.17613277C>A NCBI36
NG_033191.1:g.92782C>A
NG_033191.2:g.92782C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7696C>A ENSP00000382323.2:p.Leu2566Met
ENST00000399397.6:c.7660C>A MANE Select ENSP00000382329.2:p.Leu2554Met
ENST00000342528.2:c.4322-456C>A ENSP00000341666.2:n.4322-456C>A
ENST00000399391.6:c.7696C>A ENSP00000382323.2:p.Leu2566Met
ENST00000399397.5:c.7660C>A ENSP00000382329.2:p.Leu2554Met
NM_001277269.1:c.7696C>A NP_001264198.1:p.Leu2566Met
NM_001292063.1:c.7660C>A NP_001278992.1:p.Leu2554Met
NM_001277269.2:c.7696C>A NP_001264198.1:p.Leu2566Met
NM_001292063.2:c.7660C>A MANE Select NP_001278992.1:p.Leu2554Met
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