Canonical Allele Identifier: CA597671850

Gene: OTOG

Linked Data

• dbSNP Id: rs1236748287
• gnomAD v2: 11-17574579-T-C
• gnomAD v3: 11-17553032-T-C
• gnomAD v4: 11-17553032-T-C
• MyVariant Identifiers: chr11:g.17574579T>C (hg19) ; chr11:g.17553032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553032T>C , CM000673.2:g.17553032T>C	GRCh38
NC_000011.9:g.17574579T>C , CM000673.1:g.17574579T>C	GRCh37
NC_000011.8:g.17531155T>C	NCBI36
NG_033191.1:g.10660T>C
NG_033191.2:g.10660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.329-87T>C	ENSP00000382323.2:n.329-87T>C
ENST00000399397.6:c.293-87T>C MANE Select	ENSP00000382329.2:n.293-87T>C
ENST00000399391.6:c.329-87T>C	ENSP00000382323.2:n.329-87T>C
ENST00000399397.5:c.293-87T>C	ENSP00000382329.2:n.293-87T>C
ENST00000428619.1:c.110-87T>C	ENSP00000399057.2:n.110-87T>C
ENST00000498332.5:n.199-87T>C
NM_001277269.1:c.329-87T>C	NP_001264198.1:n.329-87T>C
NM_001292063.1:c.293-87T>C	NP_001278992.1:n.293-87T>C
NM_001277269.2:c.329-87T>C	NP_001264198.1:n.329-87T>C
NM_001292063.2:c.293-87T>C MANE Select	NP_001278992.1:n.293-87T>C