Canonical Allele Identifier: CA379780567

Gene: OTOG

Linked Data

• gnomAD v4: 11-17638456-G-T
• MyVariant Identifiers: chr11:g.17660003G>T (hg19) ; chr11:g.17638456G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638456G>T , CM000673.2:g.17638456G>T	GRCh38
NC_000011.9:g.17660003G>T , CM000673.1:g.17660003G>T	GRCh37
NC_000011.8:g.17616579G>T	NCBI36
NG_033191.1:g.96084G>T
NG_033191.2:g.96084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7837G>T	ENSP00000382323.2:p.Glu2613Ter
ENST00000399397.6:c.7801G>T MANE Select	ENSP00000382329.2:p.Glu2601Ter
ENST00000342528.2:c.4429G>T	ENSP00000341666.2:p.Glu1477Ter
ENST00000399391.6:c.7837G>T	ENSP00000382323.2:p.Glu2613Ter
ENST00000399397.5:c.7801G>T	ENSP00000382329.2:p.Glu2601Ter
NM_001277269.1:c.7837G>T	NP_001264198.1:p.Glu2613Ter
NM_001292063.1:c.7801G>T	NP_001278992.1:p.Glu2601Ter
NM_001277269.2:c.7837G>T	NP_001264198.1:p.Glu2613Ter
NM_001292063.2:c.7801G>T MANE Select	NP_001278992.1:p.Glu2601Ter