Canonical Allele Identifier: CA379786635

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17663710C>A (hg19) ; chr11:g.17642163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642163C>A , CM000673.2:g.17642163C>A	GRCh38
NC_000011.9:g.17663710C>A , CM000673.1:g.17663710C>A	GRCh37
NC_000011.8:g.17620286C>A	NCBI36
NG_033191.1:g.99791C>A
NG_033191.2:g.99791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8368C>A	ENSP00000382323.2:p.His2790Asn
ENST00000399397.6:c.8332C>A MANE Select	ENSP00000382329.2:p.His2778Asn
ENST00000399391.6:c.8368C>A	ENSP00000382323.2:p.His2790Asn
ENST00000399397.5:c.8332C>A	ENSP00000382329.2:p.His2778Asn
NM_001277269.1:c.8368C>A	NP_001264198.1:p.His2790Asn
NM_001292063.1:c.8332C>A	NP_001278992.1:p.His2778Asn
NM_001277269.2:c.8368C>A	NP_001264198.1:p.His2790Asn
NM_001292063.2:c.8332C>A MANE Select	NP_001278992.1:p.His2778Asn