Canonical Allele Identifier: CA218478885

Gene: OTOG

Linked Data

• dbSNP Id: rs970871839
• gnomAD v3: 11-17612702-C-T
• gnomAD v4: 11-17612702-C-T
• MyVariant Identifiers: chr11:g.17634249C>T (hg19) ; chr11:g.17612702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612702C>T , CM000673.2:g.17612702C>T	GRCh38
NC_000011.9:g.17634249C>T , CM000673.1:g.17634249C>T	GRCh37
NC_000011.8:g.17590825C>T	NCBI36
NG_033191.1:g.70330C>T
NG_033191.2:g.70330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6411C>T	ENSP00000382323.2:p.Ile2137=
ENST00000399397.6:c.6375C>T MANE Select	ENSP00000382329.2:p.Ile2125=
ENST00000342528.2:c.3429C>T	ENSP00000341666.2:p.Ile1143=
ENST00000399391.6:c.6411C>T	ENSP00000382323.2:p.Ile2137=
ENST00000399397.5:c.6375C>T	ENSP00000382329.2:p.Ile2125=
NM_001277269.1:c.6411C>T	NP_001264198.1:p.Ile2137=
NM_001292063.1:c.6375C>T	NP_001278992.1:p.Ile2125=
NM_001277269.2:c.6411C>T	NP_001264198.1:p.Ile2137=
NM_001292063.2:c.6375C>T MANE Select	NP_001278992.1:p.Ile2125=