Canonical Allele Identifier: CA379787030

Gene: OTOG

Linked Data

• gnomAD v4: 11-17642197-T-G
• MyVariant Identifiers: chr11:g.17663744T>G (hg19) ; chr11:g.17642197T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642197T>G , CM000673.2:g.17642197T>G	GRCh38
NC_000011.9:g.17663744T>G , CM000673.1:g.17663744T>G	GRCh37
NC_000011.8:g.17620320T>G	NCBI36
NG_033191.1:g.99825T>G
NG_033191.2:g.99825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8402T>G	ENSP00000382323.2:p.Val2801Gly
ENST00000399397.6:c.8366T>G MANE Select	ENSP00000382329.2:p.Val2789Gly
ENST00000399391.6:c.8402T>G	ENSP00000382323.2:p.Val2801Gly
ENST00000399397.5:c.8366T>G	ENSP00000382329.2:p.Val2789Gly
NM_001277269.1:c.8402T>G	NP_001264198.1:p.Val2801Gly
NM_001292063.1:c.8366T>G	NP_001278992.1:p.Val2789Gly
NM_001277269.2:c.8402T>G	NP_001264198.1:p.Val2801Gly
NM_001292063.2:c.8366T>G MANE Select	NP_001278992.1:p.Val2789Gly