Canonical Allele Identifier: CA935537281
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1182894181
gnomAD v3: 11-17612351-A-C
gnomAD v4: 11-17612351-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612351A>C , CM000673.2:g.17612351A>C GRCh38
NC_000011.9:g.17633898A>C , CM000673.1:g.17633898A>C GRCh37
NC_000011.8:g.17590474A>C NCBI36
NG_033191.1:g.69979A>C
NG_033191.2:g.69979A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6328+21A>C ENSP00000382323.2:n.6328+21A>C
ENST00000399397.6:c.6292+21A>C MANE Select ENSP00000382329.2:n.6292+21A>C
ENST00000342528.2:c.3346+21A>C ENSP00000341666.2:n.3346+21A>C
ENST00000399391.6:c.6328+21A>C ENSP00000382323.2:n.6328+21A>C
ENST00000399397.5:c.6292+21A>C ENSP00000382329.2:n.6292+21A>C
NM_001277269.1:c.6328+21A>C NP_001264198.1:n.6328+21A>C
NM_001292063.1:c.6292+21A>C NP_001278992.1:n.6292+21A>C
NM_001277269.2:c.6328+21A>C NP_001264198.1:n.6328+21A>C
NM_001292063.2:c.6292+21A>C MANE Select NP_001278992.1:n.6292+21A>C
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