Canonical Allele Identifier: CA218490163

Gene: OTOG

Linked Data

• dbSNP Id: rs997567428
• gnomAD v2: 11-17574990-A-G
• gnomAD v3: 11-17553443-A-G
• gnomAD v4: 11-17553443-A-G
• MyVariant Identifiers: chr11:g.17574990A>G (hg19) ; chr11:g.17553443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553443A>G , CM000673.2:g.17553443A>G	GRCh38
NC_000011.9:g.17574990A>G , CM000673.1:g.17574990A>G	GRCh37
NC_000011.8:g.17531566A>G	NCBI36
NG_033191.1:g.11071A>G
NG_033191.2:g.11071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.500A>G	ENSP00000382323.2:p.Tyr167Cys
ENST00000399397.6:c.464A>G MANE Select	ENSP00000382329.2:p.Tyr155Cys
ENST00000399391.6:c.500A>G	ENSP00000382323.2:p.Tyr167Cys
ENST00000399397.5:c.464A>G	ENSP00000382329.2:p.Tyr155Cys
ENST00000428619.1:c.281A>G	ENSP00000399057.2:p.Tyr94Cys
ENST00000498332.5:n.370A>G
NM_001277269.1:c.500A>G	NP_001264198.1:p.Tyr167Cys
NM_001292063.1:c.464A>G	NP_001278992.1:p.Tyr155Cys
NM_001277269.2:c.500A>G	NP_001264198.1:p.Tyr167Cys
NM_001292063.2:c.464A>G MANE Select	NP_001278992.1:p.Tyr155Cys