Canonical Allele Identifier: CA379804044

Gene: OTOG

Linked Data

• dbSNP Id: rs1424850080
• gnomAD v2: 11-17633871-T-G
• gnomAD v3: 11-17612324-T-G
• gnomAD v4: 11-17612324-T-G
• MyVariant Identifiers: chr11:g.17633871T>G (hg19) ; chr11:g.17612324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612324T>G , CM000673.2:g.17612324T>G	GRCh38
NC_000011.9:g.17633871T>G , CM000673.1:g.17633871T>G	GRCh37
NC_000011.8:g.17590447T>G	NCBI36
NG_033191.1:g.69952T>G
NG_033191.2:g.69952T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6322T>G	ENSP00000382323.2:p.Cys2108Gly
ENST00000399397.6:c.6286T>G MANE Select	ENSP00000382329.2:p.Cys2096Gly
ENST00000342528.2:c.3340T>G	ENSP00000341666.2:p.Cys1114Gly
ENST00000399391.6:c.6322T>G	ENSP00000382323.2:p.Cys2108Gly
ENST00000399397.5:c.6286T>G	ENSP00000382329.2:p.Cys2096Gly
NM_001277269.1:c.6322T>G	NP_001264198.1:p.Cys2108Gly
NM_001292063.1:c.6286T>G	NP_001278992.1:p.Cys2096Gly
NM_001277269.2:c.6322T>G	NP_001264198.1:p.Cys2108Gly
NM_001292063.2:c.6286T>G MANE Select	NP_001278992.1:p.Cys2096Gly