Canonical Allele Identifier: CA379811360

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553413-A-G
• MyVariant Identifiers: chr11:g.17574960A>G (hg19) ; chr11:g.17553413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553413A>G , CM000673.2:g.17553413A>G	GRCh38
NC_000011.9:g.17574960A>G , CM000673.1:g.17574960A>G	GRCh37
NC_000011.8:g.17531536A>G	NCBI36
NG_033191.1:g.11041A>G
NG_033191.2:g.11041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.470A>G	ENSP00000382323.2:p.Gln157Arg
ENST00000399397.6:c.434A>G MANE Select	ENSP00000382329.2:p.Gln145Arg
ENST00000399391.6:c.470A>G	ENSP00000382323.2:p.Gln157Arg
ENST00000399397.5:c.434A>G	ENSP00000382329.2:p.Gln145Arg
ENST00000428619.1:c.251A>G	ENSP00000399057.2:p.Gln84Arg
ENST00000498332.5:n.340A>G
NM_001277269.1:c.470A>G	NP_001264198.1:p.Gln157Arg
NM_001292063.1:c.434A>G	NP_001278992.1:p.Gln145Arg
NM_001277269.2:c.470A>G	NP_001264198.1:p.Gln157Arg
NM_001292063.2:c.434A>G MANE Select	NP_001278992.1:p.Gln145Arg