Canonical Allele Identifier: CA218504178
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs888309198
gnomAD v4: 11-17570131-G-A
MyVariant Identifiers: chr11:g.17591678G>A (hg19) chr11:g.17570131G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17570131G>A , CM000673.2:g.17570131G>A GRCh38
NC_000011.9:g.17591678G>A , CM000673.1:g.17591678G>A GRCh37
NC_000011.8:g.17548254G>A NCBI36
NG_033191.1:g.27759G>A
NG_033191.2:g.27759G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.1814-82G>A ENSP00000382323.2:n.1814-82G>A
ENST00000399397.6:c.1778-82G>A MANE Select ENSP00000382329.2:n.1778-82G>A
ENST00000399391.6:c.1814-82G>A ENSP00000382323.2:n.1814-82G>A
ENST00000399397.5:c.1778-82G>A ENSP00000382329.2:n.1778-82G>A
ENST00000498332.5:n.1684-82G>A
NM_001277269.1:c.1814-82G>A NP_001264198.1:n.1814-82G>A
NM_001292063.1:c.1778-82G>A NP_001278992.1:n.1778-82G>A
NM_001277269.2:c.1814-82G>A NP_001264198.1:n.1814-82G>A
NM_001292063.2:c.1778-82G>A MANE Select NP_001278992.1:n.1778-82G>A
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