Canonical Allele Identifier: CA379811630
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17553454-T-C
MyVariant Identifiers: chr11:g.17575001T>C (hg19) chr11:g.17553454T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553454T>C , CM000673.2:g.17553454T>C GRCh38
NC_000011.9:g.17575001T>C , CM000673.1:g.17575001T>C GRCh37
NC_000011.8:g.17531577T>C NCBI36
NG_033191.1:g.11082T>C
NG_033191.2:g.11082T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.511T>C ENSP00000382323.2:p.Ser171Pro
ENST00000399397.6:c.475T>C MANE Select ENSP00000382329.2:p.Ser159Pro
ENST00000399391.6:c.511T>C ENSP00000382323.2:p.Ser171Pro
ENST00000399397.5:c.475T>C ENSP00000382329.2:p.Ser159Pro
ENST00000498332.5:n.381T>C
NM_001277269.1:c.511T>C NP_001264198.1:p.Ser171Pro
NM_001292063.1:c.475T>C NP_001278992.1:p.Ser159Pro
NM_001277269.2:c.511T>C NP_001264198.1:p.Ser171Pro
NM_001292063.2:c.475T>C MANE Select NP_001278992.1:p.Ser159Pro
Search 100 bp 5'
Search 100 bp 3'