Canonical Allele Identifier: CA597677755

Gene: OTOG

Linked Data

• dbSNP Id: rs1287176344
• gnomAD v2: 11-17663813-C-A
• gnomAD v4: 11-17642266-C-A
• MyVariant Identifiers: chr11:g.17663813C>A (hg19) ; chr11:g.17642266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642266C>A , CM000673.2:g.17642266C>A	GRCh38
NC_000011.9:g.17663813C>A , CM000673.1:g.17663813C>A	GRCh37
NC_000011.8:g.17620389C>A	NCBI36
NG_033191.1:g.99894C>A
NG_033191.2:g.99894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8451+20C>A	ENSP00000382323.2:n.8451+20C>A
ENST00000399397.6:c.8415+20C>A MANE Select	ENSP00000382329.2:n.8415+20C>A
ENST00000399391.6:c.8451+20C>A	ENSP00000382323.2:n.8451+20C>A
ENST00000399397.5:c.8415+20C>A	ENSP00000382329.2:n.8415+20C>A
NM_001277269.1:c.8451+20C>A	NP_001264198.1:n.8451+20C>A
NM_001292063.1:c.8415+20C>A	NP_001278992.1:n.8415+20C>A
NM_001277269.2:c.8451+20C>A	NP_001264198.1:n.8451+20C>A
NM_001292063.2:c.8415+20C>A MANE Select	NP_001278992.1:n.8415+20C>A