Canonical Allele Identifier: CA379811485

Gene: OTOG

Linked Data

• dbSNP Id: rs1384756234
• gnomAD v2: 11-17574977-T-C
• gnomAD v4: 11-17553430-T-C
• MyVariant Identifiers: chr11:g.17574977T>C (hg19) ; chr11:g.17553430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553430T>C , CM000673.2:g.17553430T>C	GRCh38
NC_000011.9:g.17574977T>C , CM000673.1:g.17574977T>C	GRCh37
NC_000011.8:g.17531553T>C	NCBI36
NG_033191.1:g.11058T>C
NG_033191.2:g.11058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.487T>C	ENSP00000382323.2:p.Phe163Leu
ENST00000399397.6:c.451T>C MANE Select	ENSP00000382329.2:p.Phe151Leu
ENST00000399391.6:c.487T>C	ENSP00000382323.2:p.Phe163Leu
ENST00000399397.5:c.451T>C	ENSP00000382329.2:p.Phe151Leu
ENST00000428619.1:c.268T>C	ENSP00000399057.2:p.Phe90Leu
ENST00000498332.5:n.357T>C
NM_001277269.1:c.487T>C	NP_001264198.1:p.Phe163Leu
NM_001292063.1:c.451T>C	NP_001278992.1:p.Phe151Leu
NM_001277269.2:c.487T>C	NP_001264198.1:p.Phe163Leu
NM_001292063.2:c.451T>C MANE Select	NP_001278992.1:p.Phe151Leu