Canonical Allele Identifier: CA379781373

Gene: OTOG

Linked Data

• gnomAD v4: 11-17638538-A-G
• MyVariant Identifiers: chr11:g.17660085A>G (hg19) ; chr11:g.17638538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638538A>G , CM000673.2:g.17638538A>G	GRCh38
NC_000011.9:g.17660085A>G , CM000673.1:g.17660085A>G	GRCh37
NC_000011.8:g.17616661A>G	NCBI36
NG_033191.1:g.96166A>G
NG_033191.2:g.96166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7919A>G	ENSP00000382323.2:p.Tyr2640Cys
ENST00000399397.6:c.7883A>G MANE Select	ENSP00000382329.2:p.Tyr2628Cys
ENST00000342528.2:c.4511A>G	ENSP00000341666.2:p.Tyr1504Cys
ENST00000399391.6:c.7919A>G	ENSP00000382323.2:p.Tyr2640Cys
ENST00000399397.5:c.7883A>G	ENSP00000382329.2:p.Tyr2628Cys
NM_001277269.1:c.7919A>G	NP_001264198.1:p.Tyr2640Cys
NM_001292063.1:c.7883A>G	NP_001278992.1:p.Tyr2628Cys
NM_001277269.2:c.7919A>G	NP_001264198.1:p.Tyr2640Cys
NM_001292063.2:c.7883A>G MANE Select	NP_001278992.1:p.Tyr2628Cys