Canonical Allele Identifier: CA473302553
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 515111
ClinVar RCV Id: RCV000604189
dbSNP Id: rs1465273332

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17594094T>C , CM000673.2:g.17594094T>C GRCh38
NC_000011.9:g.17615641T>C , CM000673.1:g.17615641T>C GRCh37
NC_000011.8:g.17572217T>C NCBI36
NG_033191.1:g.51722T>C
NG_033191.2:g.51722T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.3372T>C ENSP00000382323.2:p.Asn1124=
ENST00000399397.6:c.3336T>C MANE Select ENSP00000382329.2:p.Asn1112=
ENST00000342528.2:c.417T>C ENSP00000341666.2:p.Asn139=
ENST00000399391.6:c.3372T>C ENSP00000382323.2:p.Asn1124=
ENST00000399397.5:c.3336T>C ENSP00000382329.2:p.Asn1112=
NM_001277269.1:c.3372T>C NP_001264198.1:p.Asn1124=
NM_001292063.1:c.3336T>C NP_001278992.1:p.Asn1112=
NM_001277269.2:c.3372T>C NP_001264198.1:p.Asn1124=
NM_001292063.2:c.3336T>C MANE Select NP_001278992.1:p.Asn1112=