Canonical Allele Identifier: CA379786973
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1565131983

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642191T>C , CM000673.2:g.17642191T>C GRCh38
NC_000011.9:g.17663738T>C , CM000673.1:g.17663738T>C GRCh37
NC_000011.8:g.17620314T>C NCBI36
NG_033191.1:g.99819T>C
NG_033191.2:g.99819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8396T>C ENSP00000382323.2:p.Val2799Ala
ENST00000399397.6:c.8360T>C MANE Select ENSP00000382329.2:p.Val2787Ala
ENST00000399391.6:c.8396T>C ENSP00000382323.2:p.Val2799Ala
ENST00000399397.5:c.8360T>C ENSP00000382329.2:p.Val2787Ala
NM_001277269.1:c.8396T>C NP_001264198.1:p.Val2799Ala
NM_001292063.1:c.8360T>C NP_001278992.1:p.Val2787Ala
NM_001277269.2:c.8396T>C NP_001264198.1:p.Val2799Ala
NM_001292063.2:c.8360T>C MANE Select NP_001278992.1:p.Val2787Ala