Canonical Allele Identifier: CA379811599
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17553449-A-C
MyVariant Identifiers: chr11:g.17574996A>C (hg19) chr11:g.17553449A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553449A>C , CM000673.2:g.17553449A>C GRCh38
NC_000011.9:g.17574996A>C , CM000673.1:g.17574996A>C GRCh37
NC_000011.8:g.17531572A>C NCBI36
NG_033191.1:g.11077A>C
NG_033191.2:g.11077A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.506A>C ENSP00000382323.2:p.Tyr169Ser
ENST00000399397.6:c.470A>C MANE Select ENSP00000382329.2:p.Tyr157Ser
ENST00000399391.6:c.506A>C ENSP00000382323.2:p.Tyr169Ser
ENST00000399397.5:c.470A>C ENSP00000382329.2:p.Tyr157Ser
ENST00000498332.5:n.376A>C
NM_001277269.1:c.506A>C NP_001264198.1:p.Tyr169Ser
NM_001292063.1:c.470A>C NP_001278992.1:p.Tyr157Ser
NM_001277269.2:c.506A>C NP_001264198.1:p.Tyr169Ser
NM_001292063.2:c.470A>C MANE Select NP_001278992.1:p.Tyr157Ser
Search 100 bp 5'
Search 100 bp 3'