Canonical Allele Identifier: CA379813090

Gene: OTOG

Linked Data

• dbSNP Id: rs1854234380
• gnomAD v4: 11-17635170-G-C
• MyVariant Identifiers: chr11:g.17656717G>C (hg19) ; chr11:g.17635170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635170G>C , CM000673.2:g.17635170G>C	GRCh38
NC_000011.9:g.17656717G>C , CM000673.1:g.17656717G>C	GRCh37
NC_000011.8:g.17613293G>C	NCBI36
NG_033191.1:g.92798G>C
NG_033191.2:g.92798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7712G>C	ENSP00000382323.2:p.Cys2571Ser
ENST00000399397.6:c.7676G>C MANE Select	ENSP00000382329.2:p.Cys2559Ser
ENST00000342528.2:c.4322-440G>C	ENSP00000341666.2:n.4322-440G>C
ENST00000399391.6:c.7712G>C	ENSP00000382323.2:p.Cys2571Ser
ENST00000399397.5:c.7676G>C	ENSP00000382329.2:p.Cys2559Ser
NM_001277269.1:c.7712G>C	NP_001264198.1:p.Cys2571Ser
NM_001292063.1:c.7676G>C	NP_001278992.1:p.Cys2559Ser
NM_001277269.2:c.7712G>C	NP_001264198.1:p.Cys2571Ser
NM_001292063.2:c.7676G>C MANE Select	NP_001278992.1:p.Cys2559Ser