Canonical Allele Identifier: CA473516740
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574928T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553381T>A , CM000673.2:g.17553381T>A GRCh38
NC_000011.9:g.17574928T>A , CM000673.1:g.17574928T>A GRCh37
NC_000011.8:g.17531504T>A NCBI36
NG_033191.1:g.11009T>A
NG_033191.2:g.11009T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.438T>A ENSP00000382323.2:p.Pro146=
ENST00000399397.6:c.402T>A MANE Select ENSP00000382329.2:p.Pro134=
ENST00000399391.6:c.438T>A ENSP00000382323.2:p.Pro146=
ENST00000399397.5:c.402T>A ENSP00000382329.2:p.Pro134=
ENST00000428619.1:c.219T>A ENSP00000399057.2:p.Pro73=
ENST00000498332.5:n.308T>A
NM_001277269.1:c.438T>A NP_001264198.1:p.Pro146=
NM_001292063.1:c.402T>A NP_001278992.1:p.Pro134=
NM_001277269.2:c.438T>A NP_001264198.1:p.Pro146=
NM_001292063.2:c.402T>A MANE Select NP_001278992.1:p.Pro134=