Canonical Allele Identifier: CA379813117
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17656729T>C (hg19) chr11:g.17635182T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635182T>C , CM000673.2:g.17635182T>C GRCh38
NC_000011.9:g.17656729T>C , CM000673.1:g.17656729T>C GRCh37
NC_000011.8:g.17613305T>C NCBI36
NG_033191.1:g.92810T>C
NG_033191.2:g.92810T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7724T>C ENSP00000382323.2:p.Phe2575Ser
ENST00000399397.6:c.7688T>C MANE Select ENSP00000382329.2:p.Phe2563Ser
ENST00000342528.2:c.4322-428T>C ENSP00000341666.2:n.4322-428T>C
ENST00000399391.6:c.7724T>C ENSP00000382323.2:p.Phe2575Ser
ENST00000399397.5:c.7688T>C ENSP00000382329.2:p.Phe2563Ser
NM_001277269.1:c.7724T>C NP_001264198.1:p.Phe2575Ser
NM_001292063.1:c.7688T>C NP_001278992.1:p.Phe2563Ser
NM_001277269.2:c.7724T>C NP_001264198.1:p.Phe2575Ser
NM_001292063.2:c.7688T>C MANE Select NP_001278992.1:p.Phe2563Ser
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