Canonical Allele Identifier: CA2612686754
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17612588-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612588C>T , CM000673.2:g.17612588C>T GRCh38
NC_000011.9:g.17634135C>T , CM000673.1:g.17634135C>T GRCh37
NC_000011.8:g.17590711C>T NCBI36
NG_033191.1:g.70216C>T
NG_033191.2:g.70216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6329-32C>T ENSP00000382323.2:n.6329-32C>T
ENST00000399397.6:c.6293-32C>T MANE Select ENSP00000382329.2:n.6293-32C>T
ENST00000342528.2:c.3347-32C>T ENSP00000341666.2:n.3347-32C>T
ENST00000399391.6:c.6329-32C>T ENSP00000382323.2:n.6329-32C>T
ENST00000399397.5:c.6293-32C>T ENSP00000382329.2:n.6293-32C>T
NM_001277269.1:c.6329-32C>T NP_001264198.1:n.6329-32C>T
NM_001292063.1:c.6293-32C>T NP_001278992.1:n.6293-32C>T
NM_001277269.2:c.6329-32C>T NP_001264198.1:n.6329-32C>T
NM_001292063.2:c.6293-32C>T MANE Select NP_001278992.1:n.6293-32C>T
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