Canonical Allele Identifier: CA379804493

Gene: OTOG

Linked Data

• dbSNP Id: rs1425691749
• gnomAD v3: 11-17612725-T-A
• gnomAD v4: 11-17612725-T-A
• MyVariant Identifiers: chr11:g.17634272T>A (hg19) ; chr11:g.17612725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612725T>A , CM000673.2:g.17612725T>A	GRCh38
NC_000011.9:g.17634272T>A , CM000673.1:g.17634272T>A	GRCh37
NC_000011.8:g.17590848T>A	NCBI36
NG_033191.1:g.70353T>A
NG_033191.2:g.70353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6434T>A	ENSP00000382323.2:p.Met2145Lys
ENST00000399397.6:c.6398T>A MANE Select	ENSP00000382329.2:p.Met2133Lys
ENST00000342528.2:c.3452T>A	ENSP00000341666.2:p.Met1151Lys
ENST00000399391.6:c.6434T>A	ENSP00000382323.2:p.Met2145Lys
ENST00000399397.5:c.6398T>A	ENSP00000382329.2:p.Met2133Lys
NM_001277269.1:c.6434T>A	NP_001264198.1:p.Met2145Lys
NM_001292063.1:c.6398T>A	NP_001278992.1:p.Met2133Lys
NM_001277269.2:c.6434T>A	NP_001264198.1:p.Met2145Lys
NM_001292063.2:c.6398T>A MANE Select	NP_001278992.1:p.Met2133Lys