Canonical Allele Identifier: CA597904997
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs543311097
gnomAD v2: 11-17634030-C-A
gnomAD v3: 11-17612483-C-A
gnomAD v4: 11-17612483-C-A
MyVariant Identifiers: chr11:g.17634030C>A (hg19) chr11:g.17612483C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612483C>A , CM000673.2:g.17612483C>A GRCh38
NC_000011.9:g.17634030C>A , CM000673.1:g.17634030C>A GRCh37
NC_000011.8:g.17590606C>A NCBI36
NG_033191.1:g.70111C>A
NG_033191.2:g.70111C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6329-137C>A ENSP00000382323.2:n.6329-137C>A
ENST00000399397.6:c.6293-137C>A MANE Select ENSP00000382329.2:n.6293-137C>A
ENST00000342528.2:c.3347-137C>A ENSP00000341666.2:n.3347-137C>A
ENST00000399391.6:c.6329-137C>A ENSP00000382323.2:n.6329-137C>A
ENST00000399397.5:c.6293-137C>A ENSP00000382329.2:n.6293-137C>A
NM_001277269.1:c.6329-137C>A NP_001264198.1:n.6329-137C>A
NM_001292063.1:c.6293-137C>A NP_001278992.1:n.6293-137C>A
NM_001277269.2:c.6329-137C>A NP_001264198.1:n.6329-137C>A
NM_001292063.2:c.6293-137C>A MANE Select NP_001278992.1:n.6293-137C>A
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