Canonical Allele Identifier: CA5906276
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs576084175
ExAC: 11:17663720 G / C
gnomAD v2: 11-17663720-G-C
gnomAD v3: 11-17642173-G-C
gnomAD v4: 11-17642173-G-C
MyVariant Identifiers: chr11:g.17663720G>C (hg19) chr11:g.17642173G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642173G>C , CM000673.2:g.17642173G>C GRCh38
NC_000011.9:g.17663720G>C , CM000673.1:g.17663720G>C GRCh37
NC_000011.8:g.17620296G>C NCBI36
NG_033191.1:g.99801G>C
NG_033191.2:g.99801G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8378G>C ENSP00000382323.2:p.Ser2793Thr
ENST00000399397.6:c.8342G>C MANE Select ENSP00000382329.2:p.Ser2781Thr
ENST00000399391.6:c.8378G>C ENSP00000382323.2:p.Ser2793Thr
ENST00000399397.5:c.8342G>C ENSP00000382329.2:p.Ser2781Thr
NM_001277269.1:c.8378G>C NP_001264198.1:p.Ser2793Thr
NM_001292063.1:c.8342G>C NP_001278992.1:p.Ser2781Thr
NM_001277269.2:c.8378G>C NP_001264198.1:p.Ser2793Thr
NM_001292063.2:c.8342G>C MANE Select NP_001278992.1:p.Ser2781Thr
Search 100 bp 5'
Search 100 bp 3'