Canonical Allele Identifier: CA379786321
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17642131-G-A
MyVariant Identifiers: chr11:g.17663678G>A (hg19) chr11:g.17642131G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642131G>A , CM000673.2:g.17642131G>A GRCh38
NC_000011.9:g.17663678G>A , CM000673.1:g.17663678G>A GRCh37
NC_000011.8:g.17620254G>A NCBI36
NG_033191.1:g.99759G>A
NG_033191.2:g.99759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8336G>A ENSP00000382323.2:p.Gly2779Glu
ENST00000399397.6:c.8300G>A MANE Select ENSP00000382329.2:p.Gly2767Glu
ENST00000399391.6:c.8336G>A ENSP00000382323.2:p.Gly2779Glu
ENST00000399397.5:c.8300G>A ENSP00000382329.2:p.Gly2767Glu
NM_001277269.1:c.8336G>A NP_001264198.1:p.Gly2779Glu
NM_001292063.1:c.8300G>A NP_001278992.1:p.Gly2767Glu
NM_001277269.2:c.8336G>A NP_001264198.1:p.Gly2779Glu
NM_001292063.2:c.8300G>A MANE Select NP_001278992.1:p.Gly2767Glu
Search 100 bp 5'
Search 100 bp 3'