Canonical Allele Identifier: CA473305821

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612765-G-A
• MyVariant Identifiers: chr11:g.17634312G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612765G>A , CM000673.2:g.17612765G>A	GRCh38
NC_000011.9:g.17634312G>A , CM000673.1:g.17634312G>A	GRCh37
NC_000011.8:g.17590888G>A	NCBI36
NG_033191.1:g.70393G>A
NG_033191.2:g.70393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6474G>A	ENSP00000382323.2:p.Leu2158=
ENST00000399397.6:c.6438G>A MANE Select	ENSP00000382329.2:p.Leu2146=
ENST00000342528.2:c.3492G>A	ENSP00000341666.2:p.Leu1164=
ENST00000399391.6:c.6474G>A	ENSP00000382323.2:p.Leu2158=
ENST00000399397.5:c.6438G>A	ENSP00000382329.2:p.Leu2146=
NM_001277269.1:c.6474G>A	NP_001264198.1:p.Leu2158=
NM_001292063.1:c.6438G>A	NP_001278992.1:p.Leu2146=
NM_001277269.2:c.6474G>A	NP_001264198.1:p.Leu2158=
NM_001292063.2:c.6438G>A MANE Select	NP_001278992.1:p.Leu2146=