Canonical Allele Identifier: CA218478825
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1032723398

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612673G>A , CM000673.2:g.17612673G>A GRCh38
NC_000011.9:g.17634220G>A , CM000673.1:g.17634220G>A GRCh37
NC_000011.8:g.17590796G>A NCBI36
NG_033191.1:g.70301G>A
NG_033191.2:g.70301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6382G>A ENSP00000382323.2:p.Val2128Ile
ENST00000399397.6:c.6346G>A MANE Select ENSP00000382329.2:p.Val2116Ile
ENST00000342528.2:c.3400G>A ENSP00000341666.2:p.Val1134Ile
ENST00000399391.6:c.6382G>A ENSP00000382323.2:p.Val2128Ile
ENST00000399397.5:c.6346G>A ENSP00000382329.2:p.Val2116Ile
NM_001277269.1:c.6382G>A NP_001264198.1:p.Val2128Ile
NM_001292063.1:c.6346G>A NP_001278992.1:p.Val2116Ile
NM_001277269.2:c.6382G>A NP_001264198.1:p.Val2128Ile
NM_001292063.2:c.6346G>A MANE Select NP_001278992.1:p.Val2116Ile