Canonical Allele Identifier: CA2612690868
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17642250-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642250A>G , CM000673.2:g.17642250A>G GRCh38
NC_000011.9:g.17663797A>G , CM000673.1:g.17663797A>G GRCh37
NC_000011.8:g.17620373A>G NCBI36
NG_033191.1:g.99878A>G
NG_033191.2:g.99878A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8451+4A>G ENSP00000382323.2:n.8451+4A>G
ENST00000399397.6:c.8415+4A>G MANE Select ENSP00000382329.2:n.8415+4A>G
ENST00000399391.6:c.8451+4A>G ENSP00000382323.2:n.8451+4A>G
ENST00000399397.5:c.8415+4A>G ENSP00000382329.2:n.8415+4A>G
NM_001277269.1:c.8451+4A>G NP_001264198.1:n.8451+4A>G
NM_001292063.1:c.8415+4A>G NP_001278992.1:n.8415+4A>G
NM_001277269.2:c.8451+4A>G NP_001264198.1:n.8451+4A>G
NM_001292063.2:c.8415+4A>G MANE Select NP_001278992.1:n.8415+4A>G
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