Canonical Allele Identifier: CA379804108
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17633877T>A (hg19) chr11:g.17612330T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612330T>A , CM000673.2:g.17612330T>A GRCh38
NC_000011.9:g.17633877T>A , CM000673.1:g.17633877T>A GRCh37
NC_000011.8:g.17590453T>A NCBI36
NG_033191.1:g.69958T>A
NG_033191.2:g.69958T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6328T>A ENSP00000382323.2:p.Cys2110Ser
ENST00000399397.6:c.6292T>A MANE Select ENSP00000382329.2:p.Cys2098Ser
ENST00000342528.2:c.3346T>A ENSP00000341666.2:p.Cys1116Ser
ENST00000399391.6:c.6328T>A ENSP00000382323.2:p.Cys2110Ser
ENST00000399397.5:c.6292T>A ENSP00000382329.2:p.Cys2098Ser
NM_001277269.1:c.6328T>A NP_001264198.1:p.Cys2110Ser
NM_001292063.1:c.6292T>A NP_001278992.1:p.Cys2098Ser
NM_001277269.2:c.6328T>A NP_001264198.1:p.Cys2110Ser
NM_001292063.2:c.6292T>A MANE Select NP_001278992.1:p.Cys2098Ser
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