Canonical Allele Identifier: CA473516798
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17575030T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553483T>G , CM000673.2:g.17553483T>G GRCh38
NC_000011.9:g.17575030T>G , CM000673.1:g.17575030T>G GRCh37
NC_000011.8:g.17531606T>G NCBI36
NG_033191.1:g.11111T>G
NG_033191.2:g.11111T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.540T>G ENSP00000382323.2:p.Gly180=
ENST00000399397.6:c.504T>G MANE Select ENSP00000382329.2:p.Gly168=
ENST00000399391.6:c.540T>G ENSP00000382323.2:p.Gly180=
ENST00000399397.5:c.504T>G ENSP00000382329.2:p.Gly168=
ENST00000498332.5:n.410T>G
NM_001277269.1:c.540T>G NP_001264198.1:p.Gly180=
NM_001292063.1:c.504T>G NP_001278992.1:p.Gly168=
NM_001277269.2:c.540T>G NP_001264198.1:p.Gly180=
NM_001292063.2:c.504T>G MANE Select NP_001278992.1:p.Gly168=