Canonical Allele Identifier: CA379811491

Gene: OTOG

Linked Data

• dbSNP Id: rs1383092658
• gnomAD v2: 11-17574978-T-C
• gnomAD v4: 11-17553431-T-C
• MyVariant Identifiers: chr11:g.17574978T>C (hg19) ; chr11:g.17553431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553431T>C , CM000673.2:g.17553431T>C	GRCh38
NC_000011.9:g.17574978T>C , CM000673.1:g.17574978T>C	GRCh37
NC_000011.8:g.17531554T>C	NCBI36
NG_033191.1:g.11059T>C
NG_033191.2:g.11059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.488T>C	ENSP00000382323.2:p.Phe163Ser
ENST00000399397.6:c.452T>C MANE Select	ENSP00000382329.2:p.Phe151Ser
ENST00000399391.6:c.488T>C	ENSP00000382323.2:p.Phe163Ser
ENST00000399397.5:c.452T>C	ENSP00000382329.2:p.Phe151Ser
ENST00000428619.1:c.269T>C	ENSP00000399057.2:p.Phe90Ser
ENST00000498332.5:n.358T>C
NM_001277269.1:c.488T>C	NP_001264198.1:p.Phe163Ser
NM_001292063.1:c.452T>C	NP_001278992.1:p.Phe151Ser
NM_001277269.2:c.488T>C	NP_001264198.1:p.Phe163Ser
NM_001292063.2:c.452T>C MANE Select	NP_001278992.1:p.Phe151Ser