Canonical Allele Identifier: CA379813019

Gene: OTOG

Linked Data

• dbSNP Id: rs2133709760
• MyVariant Identifiers: chr11:g.17656683A>C (hg19) ; chr11:g.17635136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635136A>C , CM000673.2:g.17635136A>C	GRCh38
NC_000011.9:g.17656683A>C , CM000673.1:g.17656683A>C	GRCh37
NC_000011.8:g.17613259A>C	NCBI36
NG_033191.1:g.92764A>C
NG_033191.2:g.92764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7678A>C	ENSP00000382323.2:p.Ile2560Leu
ENST00000399397.6:c.7642A>C MANE Select	ENSP00000382329.2:p.Ile2548Leu
ENST00000342528.2:c.4322-474A>C	ENSP00000341666.2:n.4322-474A>C
ENST00000399391.6:c.7678A>C	ENSP00000382323.2:p.Ile2560Leu
ENST00000399397.5:c.7642A>C	ENSP00000382329.2:p.Ile2548Leu
NM_001277269.1:c.7678A>C	NP_001264198.1:p.Ile2560Leu
NM_001292063.1:c.7642A>C	NP_001278992.1:p.Ile2548Leu
NM_001277269.2:c.7678A>C	NP_001264198.1:p.Ile2560Leu
NM_001292063.2:c.7642A>C MANE Select	NP_001278992.1:p.Ile2548Leu