Canonical Allele Identifier: CA249343

Gene: OTOG

Linked Data

• ClinVar Variation Id: 218585
• ClinVar RCV Id: RCV000203141 ; RCV001563013 ; RCV003897440
• dbSNP Id: rs183470913
• ExAC: 11:17660069 G / A
• gnomAD v2: 11-17660069-G-A
• gnomAD v3: 11-17638522-G-A
• gnomAD v4: 11-17638522-G-A
• MyVariant Identifiers: chr11:g.17660069G>A (hg19) ; chr11:g.17638522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638522G>A , CM000673.2:g.17638522G>A	GRCh38
NC_000011.9:g.17660069G>A , CM000673.1:g.17660069G>A	GRCh37
NC_000011.8:g.17616645G>A	NCBI36
NG_033191.1:g.96150G>A
NG_033191.2:g.96150G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7903G>A	ENSP00000382323.2:p.Asp2635Asn
ENST00000399397.6:c.7867G>A MANE Select	ENSP00000382329.2:p.Asp2623Asn
ENST00000342528.2:c.4495G>A	ENSP00000341666.2:p.Asp1499Asn
ENST00000399391.6:c.7903G>A	ENSP00000382323.2:p.Asp2635Asn
ENST00000399397.5:c.7867G>A	ENSP00000382329.2:p.Asp2623Asn
NM_001277269.1:c.7903G>A	NP_001264198.1:p.Asp2635Asn
NM_001292063.1:c.7867G>A	NP_001278992.1:p.Asp2623Asn
NM_001277269.2:c.7903G>A	NP_001264198.1:p.Asp2635Asn
NM_001292063.2:c.7867G>A MANE Select	NP_001278992.1:p.Asp2623Asn