Canonical Allele Identifier: CA379804108

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17633877T>A (hg19) ; chr11:g.17612330T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612330T>A , CM000673.2:g.17612330T>A	GRCh38
NC_000011.9:g.17633877T>A , CM000673.1:g.17633877T>A	GRCh37
NC_000011.8:g.17590453T>A	NCBI36
NG_033191.1:g.69958T>A
NG_033191.2:g.69958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328T>A	ENSP00000382323.2:p.Cys2110Ser
ENST00000399397.6:c.6292T>A MANE Select	ENSP00000382329.2:p.Cys2098Ser
ENST00000342528.2:c.3346T>A	ENSP00000341666.2:p.Cys1116Ser
ENST00000399391.6:c.6328T>A	ENSP00000382323.2:p.Cys2110Ser
ENST00000399397.5:c.6292T>A	ENSP00000382329.2:p.Cys2098Ser
NM_001277269.1:c.6328T>A	NP_001264198.1:p.Cys2110Ser
NM_001292063.1:c.6292T>A	NP_001278992.1:p.Cys2098Ser
NM_001277269.2:c.6328T>A	NP_001264198.1:p.Cys2110Ser
NM_001292063.2:c.6292T>A MANE Select	NP_001278992.1:p.Cys2098Ser