Canonical Allele Identifier: CA379810981

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553207-G-C
• MyVariant Identifiers: chr11:g.17574754G>C (hg19) ; chr11:g.17553207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553207G>C , CM000673.2:g.17553207G>C	GRCh38
NC_000011.9:g.17574754G>C , CM000673.1:g.17574754G>C	GRCh37
NC_000011.8:g.17531330G>C	NCBI36
NG_033191.1:g.10835G>C
NG_033191.2:g.10835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.417G>C	ENSP00000382323.2:p.Gln139His
ENST00000399397.6:c.381G>C MANE Select	ENSP00000382329.2:p.Gln127His
ENST00000399391.6:c.417G>C	ENSP00000382323.2:p.Gln139His
ENST00000399397.5:c.381G>C	ENSP00000382329.2:p.Gln127His
ENST00000428619.1:c.198G>C	ENSP00000399057.2:p.Gln66His
ENST00000498332.5:n.287G>C
NM_001277269.1:c.417G>C	NP_001264198.1:p.Gln139His
NM_001292063.1:c.381G>C	NP_001278992.1:p.Gln127His
NM_001277269.2:c.417G>C	NP_001264198.1:p.Gln139His
NM_001292063.2:c.381G>C MANE Select	NP_001278992.1:p.Gln127His