Canonical Allele Identifier: CA473310937

Gene: OTOG

Linked Data

• dbSNP Id: rs1590058151
• gnomAD v4: 11-17635156-G-T
• MyVariant Identifiers: chr11:g.17656703G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635156G>T , CM000673.2:g.17635156G>T	GRCh38
NC_000011.9:g.17656703G>T , CM000673.1:g.17656703G>T	GRCh37
NC_000011.8:g.17613279G>T	NCBI36
NG_033191.1:g.92784G>T
NG_033191.2:g.92784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7698G>T	ENSP00000382323.2:p.Leu2566=
ENST00000399397.6:c.7662G>T MANE Select	ENSP00000382329.2:p.Leu2554=
ENST00000342528.2:c.4322-454G>T	ENSP00000341666.2:n.4322-454G>T
ENST00000399391.6:c.7698G>T	ENSP00000382323.2:p.Leu2566=
ENST00000399397.5:c.7662G>T	ENSP00000382329.2:p.Leu2554=
NM_001277269.1:c.7698G>T	NP_001264198.1:p.Leu2566=
NM_001292063.1:c.7662G>T	NP_001278992.1:p.Leu2554=
NM_001277269.2:c.7698G>T	NP_001264198.1:p.Leu2566=
NM_001292063.2:c.7662G>T MANE Select	NP_001278992.1:p.Leu2554=