Canonical Allele Identifier: CA473300042

Gene: OTOG

Linked Data

• dbSNP Id: rs1449287595
• gnomAD v2: 11-17663691-C-T
• gnomAD v3: 11-17642144-C-T
• gnomAD v4: 11-17642144-C-T
• MyVariant Identifiers: chr11:g.17663691C>T (hg19) ; chr11:g.17642144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642144C>T , CM000673.2:g.17642144C>T	GRCh38
NC_000011.9:g.17663691C>T , CM000673.1:g.17663691C>T	GRCh37
NC_000011.8:g.17620267C>T	NCBI36
NG_033191.1:g.99772C>T
NG_033191.2:g.99772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8349C>T	ENSP00000382323.2:p.Ile2783=
ENST00000399397.6:c.8313C>T MANE Select	ENSP00000382329.2:p.Ile2771=
ENST00000399391.6:c.8349C>T	ENSP00000382323.2:p.Ile2783=
ENST00000399397.5:c.8313C>T	ENSP00000382329.2:p.Ile2771=
NM_001277269.1:c.8349C>T	NP_001264198.1:p.Ile2783=
NM_001292063.1:c.8313C>T	NP_001278992.1:p.Ile2771=
NM_001277269.2:c.8349C>T	NP_001264198.1:p.Ile2783=
NM_001292063.2:c.8313C>T MANE Select	NP_001278992.1:p.Ile2771=