Canonical Allele Identifier: CA1955197882
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1589993623
gnomAD v4: 11-17553641-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553641A>C , CM000673.2:g.17553641A>C GRCh38
NC_000011.9:g.17575188A>C , CM000673.1:g.17575188A>C GRCh37
NC_000011.8:g.17531764A>C NCBI36
NG_033191.1:g.11269A>C
NG_033191.2:g.11269A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+122A>C ENSP00000382323.2:n.576+122A>C
ENST00000399397.6:c.540+122A>C MANE Select ENSP00000382329.2:n.540+122A>C
ENST00000399391.6:c.576+122A>C ENSP00000382323.2:n.576+122A>C
ENST00000399397.5:c.540+122A>C ENSP00000382329.2:n.540+122A>C
ENST00000498332.5:n.446+122A>C
NM_001277269.1:c.576+122A>C NP_001264198.1:n.576+122A>C
NM_001292063.1:c.540+122A>C NP_001278992.1:n.540+122A>C
NM_001277269.2:c.576+122A>C NP_001264198.1:n.576+122A>C
NM_001292063.2:c.540+122A>C MANE Select NP_001278992.1:n.540+122A>C
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