Canonical Allele Identifier: CA473516758
Gene: OTOG HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17574970G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553423G>T , CM000673.2:g.17553423G>T GRCh38
NC_000011.9:g.17574970G>T , CM000673.1:g.17574970G>T GRCh37
NC_000011.8:g.17531546G>T NCBI36
NG_033191.1:g.11051G>T
NG_033191.2:g.11051G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.480G>T ENSP00000382323.2:p.Val160=
ENST00000399397.6:c.444G>T MANE Select ENSP00000382329.2:p.Val148=
ENST00000399391.6:c.480G>T ENSP00000382323.2:p.Val160=
ENST00000399397.5:c.444G>T ENSP00000382329.2:p.Val148=
ENST00000428619.1:c.261G>T ENSP00000399057.2:p.Val87=
ENST00000498332.5:n.350G>T
NM_001277269.1:c.480G>T NP_001264198.1:p.Val160=
NM_001292063.1:c.444G>T NP_001278992.1:p.Val148=
NM_001277269.2:c.480G>T NP_001264198.1:p.Val160=
NM_001292063.2:c.444G>T MANE Select NP_001278992.1:p.Val148=