Canonical Allele Identifier: CA379811421

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553419-A-C
• MyVariant Identifiers: chr11:g.17574966A>C (hg19) ; chr11:g.17553419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553419A>C , CM000673.2:g.17553419A>C	GRCh38
NC_000011.9:g.17574966A>C , CM000673.1:g.17574966A>C	GRCh37
NC_000011.8:g.17531542A>C	NCBI36
NG_033191.1:g.11047A>C
NG_033191.2:g.11047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.476A>C	ENSP00000382323.2:p.His159Pro
ENST00000399397.6:c.440A>C MANE Select	ENSP00000382329.2:p.His147Pro
ENST00000399391.6:c.476A>C	ENSP00000382323.2:p.His159Pro
ENST00000399397.5:c.440A>C	ENSP00000382329.2:p.His147Pro
ENST00000428619.1:c.257A>C	ENSP00000399057.2:p.His86Pro
ENST00000498332.5:n.346A>C
NM_001277269.1:c.476A>C	NP_001264198.1:p.His159Pro
NM_001292063.1:c.440A>C	NP_001278992.1:p.His147Pro
NM_001277269.2:c.476A>C	NP_001264198.1:p.His159Pro
NM_001292063.2:c.440A>C MANE Select	NP_001278992.1:p.His147Pro