Canonical Allele Identifier: CA379813060

Gene: OTOG

Linked Data

• dbSNP Id: rs1173344027
• gnomAD v2: 11-17656704-G-T
• gnomAD v3: 11-17635157-G-T
• gnomAD v4: 11-17635157-G-T
• MyVariant Identifiers: chr11:g.17656704G>T (hg19) ; chr11:g.17635157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635157G>T , CM000673.2:g.17635157G>T	GRCh38
NC_000011.9:g.17656704G>T , CM000673.1:g.17656704G>T	GRCh37
NC_000011.8:g.17613280G>T	NCBI36
NG_033191.1:g.92785G>T
NG_033191.2:g.92785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7699G>T	ENSP00000382323.2:p.Gly2567Trp
ENST00000399397.6:c.7663G>T MANE Select	ENSP00000382329.2:p.Gly2555Trp
ENST00000342528.2:c.4322-453G>T	ENSP00000341666.2:n.4322-453G>T
ENST00000399391.6:c.7699G>T	ENSP00000382323.2:p.Gly2567Trp
ENST00000399397.5:c.7663G>T	ENSP00000382329.2:p.Gly2555Trp
NM_001277269.1:c.7699G>T	NP_001264198.1:p.Gly2567Trp
NM_001292063.1:c.7663G>T	NP_001278992.1:p.Gly2555Trp
NM_001277269.2:c.7699G>T	NP_001264198.1:p.Gly2567Trp
NM_001292063.2:c.7663G>T MANE Select	NP_001278992.1:p.Gly2555Trp