Canonical Allele Identifier: CA597904762

Gene: OTOG

Linked Data

• dbSNP Id: rs1235527790
• gnomAD v2: 11-17574800-T-G
• gnomAD v4: 11-17553253-T-G
• MyVariant Identifiers: chr11:g.17574800T>G (hg19) ; chr11:g.17553253T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553253T>G , CM000673.2:g.17553253T>G	GRCh38
NC_000011.9:g.17574800T>G , CM000673.1:g.17574800T>G	GRCh37
NC_000011.8:g.17531376T>G	NCBI36
NG_033191.1:g.10881T>G
NG_033191.2:g.10881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.421+42T>G	ENSP00000382323.2:n.421+42T>G
ENST00000399397.6:c.385+42T>G MANE Select	ENSP00000382329.2:n.385+42T>G
ENST00000399391.6:c.421+42T>G	ENSP00000382323.2:n.421+42T>G
ENST00000399397.5:c.385+42T>G	ENSP00000382329.2:n.385+42T>G
ENST00000428619.1:c.202+42T>G	ENSP00000399057.2:n.202+42T>G
ENST00000498332.5:n.291+42T>G
NM_001277269.1:c.421+42T>G	NP_001264198.1:n.421+42T>G
NM_001292063.1:c.385+42T>G	NP_001278992.1:n.385+42T>G
NM_001277269.2:c.421+42T>G	NP_001264198.1:n.421+42T>G
NM_001292063.2:c.385+42T>G MANE Select	NP_001278992.1:n.385+42T>G