Canonical Allele Identifier: CA379804370

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17634233A>C (hg19) ; chr11:g.17612686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612686A>C , CM000673.2:g.17612686A>C	GRCh38
NC_000011.9:g.17634233A>C , CM000673.1:g.17634233A>C	GRCh37
NC_000011.8:g.17590809A>C	NCBI36
NG_033191.1:g.70314A>C
NG_033191.2:g.70314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6395A>C	ENSP00000382323.2:p.Lys2132Thr
ENST00000399397.6:c.6359A>C MANE Select	ENSP00000382329.2:p.Lys2120Thr
ENST00000342528.2:c.3413A>C	ENSP00000341666.2:p.Lys1138Thr
ENST00000399391.6:c.6395A>C	ENSP00000382323.2:p.Lys2132Thr
ENST00000399397.5:c.6359A>C	ENSP00000382329.2:p.Lys2120Thr
NM_001277269.1:c.6395A>C	NP_001264198.1:p.Lys2132Thr
NM_001292063.1:c.6359A>C	NP_001278992.1:p.Lys2120Thr
NM_001277269.2:c.6395A>C	NP_001264198.1:p.Lys2132Thr
NM_001292063.2:c.6359A>C MANE Select	NP_001278992.1:p.Lys2120Thr