Canonical Allele Identifier: CA597904755

Gene: OTOG

Linked Data

• dbSNP Id: rs1462796753
• gnomAD v2: 11-17574784-C-T
• gnomAD v4: 11-17553237-C-T
• MyVariant Identifiers: chr11:g.17574784C>T (hg19) ; chr11:g.17553237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553237C>T , CM000673.2:g.17553237C>T	GRCh38
NC_000011.9:g.17574784C>T , CM000673.1:g.17574784C>T	GRCh37
NC_000011.8:g.17531360C>T	NCBI36
NG_033191.1:g.10865C>T
NG_033191.2:g.10865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.421+26C>T	ENSP00000382323.2:n.421+26C>T
ENST00000399397.6:c.385+26C>T MANE Select	ENSP00000382329.2:n.385+26C>T
ENST00000399391.6:c.421+26C>T	ENSP00000382323.2:n.421+26C>T
ENST00000399397.5:c.385+26C>T	ENSP00000382329.2:n.385+26C>T
ENST00000428619.1:c.202+26C>T	ENSP00000399057.2:n.202+26C>T
ENST00000498332.5:n.291+26C>T
NM_001277269.1:c.421+26C>T	NP_001264198.1:n.421+26C>T
NM_001292063.1:c.385+26C>T	NP_001278992.1:n.385+26C>T
NM_001277269.2:c.421+26C>T	NP_001264198.1:n.421+26C>T
NM_001292063.2:c.385+26C>T MANE Select	NP_001278992.1:n.385+26C>T