Canonical Allele Identifier: CA379811510
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1851988880

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553434A>C , CM000673.2:g.17553434A>C GRCh38
NC_000011.9:g.17574981A>C , CM000673.1:g.17574981A>C GRCh37
NC_000011.8:g.17531557A>C NCBI36
NG_033191.1:g.11062A>C
NG_033191.2:g.11062A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.491A>C ENSP00000382323.2:p.Asp164Ala
ENST00000399397.6:c.455A>C MANE Select ENSP00000382329.2:p.Asp152Ala
ENST00000399391.6:c.491A>C ENSP00000382323.2:p.Asp164Ala
ENST00000399397.5:c.455A>C ENSP00000382329.2:p.Asp152Ala
ENST00000428619.1:c.272A>C ENSP00000399057.2:p.Asp91Ala
ENST00000498332.5:n.361A>C
NM_001277269.1:c.491A>C NP_001264198.1:p.Asp164Ala
NM_001292063.1:c.455A>C NP_001278992.1:p.Asp152Ala
NM_001277269.2:c.491A>C NP_001264198.1:p.Asp164Ala
NM_001292063.2:c.455A>C MANE Select NP_001278992.1:p.Asp152Ala