Canonical Allele Identifier: CA473305804

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17634285T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612738T>C , CM000673.2:g.17612738T>C	GRCh38
NC_000011.9:g.17634285T>C , CM000673.1:g.17634285T>C	GRCh37
NC_000011.8:g.17590861T>C	NCBI36
NG_033191.1:g.70366T>C
NG_033191.2:g.70366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6447T>C	ENSP00000382323.2:p.His2149=
ENST00000399397.6:c.6411T>C MANE Select	ENSP00000382329.2:p.His2137=
ENST00000342528.2:c.3465T>C	ENSP00000341666.2:p.His1155=
ENST00000399391.6:c.6447T>C	ENSP00000382323.2:p.His2149=
ENST00000399397.5:c.6411T>C	ENSP00000382329.2:p.His2137=
NM_001277269.1:c.6447T>C	NP_001264198.1:p.His2149=
NM_001292063.1:c.6411T>C	NP_001278992.1:p.His2137=
NM_001277269.2:c.6447T>C	NP_001264198.1:p.His2149=
NM_001292063.2:c.6411T>C MANE Select	NP_001278992.1:p.His2137=