Canonical Allele Identifier: CA379803979

Gene: OTOG

Linked Data

• dbSNP Id: rs1448851858
• gnomAD v3: 11-17612311-C-A
• gnomAD v4: 11-17612311-C-A
• MyVariant Identifiers: chr11:g.17633858C>A (hg19) ; chr11:g.17612311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612311C>A , CM000673.2:g.17612311C>A	GRCh38
NC_000011.9:g.17633858C>A , CM000673.1:g.17633858C>A	GRCh37
NC_000011.8:g.17590434C>A	NCBI36
NG_033191.1:g.69939C>A
NG_033191.2:g.69939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6309C>A	ENSP00000382323.2:p.Cys2103Ter
ENST00000399397.6:c.6273C>A MANE Select	ENSP00000382329.2:p.Cys2091Ter
ENST00000342528.2:c.3327C>A	ENSP00000341666.2:p.Cys1109Ter
ENST00000399391.6:c.6309C>A	ENSP00000382323.2:p.Cys2103Ter
ENST00000399397.5:c.6273C>A	ENSP00000382329.2:p.Cys2091Ter
NM_001277269.1:c.6309C>A	NP_001264198.1:p.Cys2103Ter
NM_001292063.1:c.6273C>A	NP_001278992.1:p.Cys2091Ter
NM_001277269.2:c.6309C>A	NP_001264198.1:p.Cys2103Ter
NM_001292063.2:c.6273C>A MANE Select	NP_001278992.1:p.Cys2091Ter