Canonical Allele Identifier: CA473305786
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17634252C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612705C>G , CM000673.2:g.17612705C>G GRCh38
NC_000011.9:g.17634252C>G , CM000673.1:g.17634252C>G GRCh37
NC_000011.8:g.17590828C>G NCBI36
NG_033191.1:g.70333C>G
NG_033191.2:g.70333C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6414C>G ENSP00000382323.2:p.Leu2138=
ENST00000399397.6:c.6378C>G MANE Select ENSP00000382329.2:p.Leu2126=
ENST00000342528.2:c.3432C>G ENSP00000341666.2:p.Leu1144=
ENST00000399391.6:c.6414C>G ENSP00000382323.2:p.Leu2138=
ENST00000399397.5:c.6378C>G ENSP00000382329.2:p.Leu2126=
NM_001277269.1:c.6414C>G NP_001264198.1:p.Leu2138=
NM_001292063.1:c.6378C>G NP_001278992.1:p.Leu2126=
NM_001277269.2:c.6414C>G NP_001264198.1:p.Leu2138=
NM_001292063.2:c.6378C>G MANE Select NP_001278992.1:p.Leu2126=