Canonical Allele Identifier: CA379812868
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 505310
ClinVar RCV Id: RCV000603000
dbSNP Id: rs1401870617

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634950T>C , CM000673.2:g.17634950T>C GRCh38
NC_000011.9:g.17656497T>C , CM000673.1:g.17656497T>C GRCh37
NC_000011.8:g.17613073T>C NCBI36
NG_033191.1:g.92578T>C
NG_033191.2:g.92578T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.7621+2T>C ENSP00000382323.2:n.7621+2T>C
ENST00000399397.6:c.7585+2T>C MANE Select ENSP00000382329.2:n.7585+2T>C
ENST00000342528.2:c.4322-660T>C ENSP00000341666.2:n.4322-660T>C
ENST00000399391.6:c.7621+2T>C ENSP00000382323.2:n.7621+2T>C
ENST00000399397.5:c.7585+2T>C ENSP00000382329.2:n.7585+2T>C
NM_001277269.1:c.7621+2T>C NP_001264198.1:n.7621+2T>C
NM_001292063.1:c.7585+2T>C NP_001278992.1:n.7585+2T>C
NM_001277269.2:c.7621+2T>C NP_001264198.1:n.7621+2T>C
NM_001292063.2:c.7585+2T>C MANE Select NP_001278992.1:n.7585+2T>C