Canonical Allele Identifier: CA473298954

Gene: OTOG

Linked Data

• dbSNP Id: rs1847899821
• gnomAD v4: 11-17638476-A-G
• MyVariant Identifiers: chr11:g.17660023A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638476A>G , CM000673.2:g.17638476A>G	GRCh38
NC_000011.9:g.17660023A>G , CM000673.1:g.17660023A>G	GRCh37
NC_000011.8:g.17616599A>G	NCBI36
NG_033191.1:g.96104A>G
NG_033191.2:g.96104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7857A>G	ENSP00000382323.2:p.Gln2619=
ENST00000399397.6:c.7821A>G MANE Select	ENSP00000382329.2:p.Gln2607=
ENST00000342528.2:c.4449A>G	ENSP00000341666.2:p.Gln1483=
ENST00000399391.6:c.7857A>G	ENSP00000382323.2:p.Gln2619=
ENST00000399397.5:c.7821A>G	ENSP00000382329.2:p.Gln2607=
NM_001277269.1:c.7857A>G	NP_001264198.1:p.Gln2619=
NM_001292063.1:c.7821A>G	NP_001278992.1:p.Gln2607=
NM_001277269.2:c.7857A>G	NP_001264198.1:p.Gln2619=
NM_001292063.2:c.7821A>G MANE Select	NP_001278992.1:p.Gln2607=