Canonical Allele Identifier: CA473300837
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1848063009
gnomAD v4: 11-17645752-A-C
MyVariant Identifiers: chr11:g.17667299A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17645752A>C , CM000673.2:g.17645752A>C GRCh38
NC_000011.9:g.17667299A>C , CM000673.1:g.17667299A>C GRCh37
NC_000011.8:g.17623875A>C NCBI36
NG_033191.1:g.103380A>C
NG_033191.2:g.103380A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.8586A>C ENSP00000382323.2:p.Leu2862=
ENST00000399397.6:c.8550A>C MANE Select ENSP00000382329.2:p.Leu2850=
ENST00000399391.6:c.8586A>C ENSP00000382323.2:p.Leu2862=
ENST00000399397.5:c.8550A>C ENSP00000382329.2:p.Leu2850=
NM_001277269.1:c.8586A>C NP_001264198.1:p.Leu2862=
NM_001292063.1:c.8550A>C NP_001278992.1:p.Leu2850=
NM_001277269.2:c.8586A>C NP_001264198.1:p.Leu2862=
NM_001292063.2:c.8550A>C MANE Select NP_001278992.1:p.Leu2850=
Search 100 bp 5'
Search 100 bp 3'