Canonical Allele Identifier: CA379810543

Gene: OTOG

Linked Data

• dbSNP Id: rs1302663778
• gnomAD v2: 11-17574689-G-A
• gnomAD v4: 11-17553142-G-A
• MyVariant Identifiers: chr11:g.17574689G>A (hg19) ; chr11:g.17553142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553142G>A , CM000673.2:g.17553142G>A	GRCh38
NC_000011.9:g.17574689G>A , CM000673.1:g.17574689G>A	GRCh37
NC_000011.8:g.17531265G>A	NCBI36
NG_033191.1:g.10770G>A
NG_033191.2:g.10770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.352G>A	ENSP00000382323.2:p.Gly118Ser
ENST00000399397.6:c.316G>A MANE Select	ENSP00000382329.2:p.Gly106Ser
ENST00000399391.6:c.352G>A	ENSP00000382323.2:p.Gly118Ser
ENST00000399397.5:c.316G>A	ENSP00000382329.2:p.Gly106Ser
ENST00000428619.1:c.133G>A	ENSP00000399057.2:p.Gly45Ser
ENST00000498332.5:n.222G>A
NM_001277269.1:c.352G>A	NP_001264198.1:p.Gly118Ser
NM_001292063.1:c.316G>A	NP_001278992.1:p.Gly106Ser
NM_001277269.2:c.352G>A	NP_001264198.1:p.Gly118Ser
NM_001292063.2:c.316G>A MANE Select	NP_001278992.1:p.Gly106Ser