Canonical Allele Identifier: CA379811815
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17553494-C-A
MyVariant Identifiers: chr11:g.17575041C>A (hg19) chr11:g.17553494C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553494C>A , CM000673.2:g.17553494C>A GRCh38
NC_000011.9:g.17575041C>A , CM000673.1:g.17575041C>A GRCh37
NC_000011.8:g.17531617C>A NCBI36
NG_033191.1:g.11122C>A
NG_033191.2:g.11122C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.551C>A ENSP00000382323.2:p.Pro184His
ENST00000399397.6:c.515C>A MANE Select ENSP00000382329.2:p.Pro172His
ENST00000399391.6:c.551C>A ENSP00000382323.2:p.Pro184His
ENST00000399397.5:c.515C>A ENSP00000382329.2:p.Pro172His
ENST00000498332.5:n.421C>A
NM_001277269.1:c.551C>A NP_001264198.1:p.Pro184His
NM_001292063.1:c.515C>A NP_001278992.1:p.Pro172His
NM_001277269.2:c.551C>A NP_001264198.1:p.Pro184His
NM_001292063.2:c.515C>A MANE Select NP_001278992.1:p.Pro172His
Search 100 bp 5'
Search 100 bp 3'