Canonical Allele Identifier: CA218504186

Gene: OTOG

Linked Data

• dbSNP Id: rs891361903
• gnomAD v3: 11-17570141-G-T
• gnomAD v4: 11-17570141-G-T
• MyVariant Identifiers: chr11:g.17591688G>T (hg19) ; chr11:g.17570141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17570141G>T , CM000673.2:g.17570141G>T	GRCh38
NC_000011.9:g.17591688G>T , CM000673.1:g.17591688G>T	GRCh37
NC_000011.8:g.17548264G>T	NCBI36
NG_033191.1:g.27769G>T
NG_033191.2:g.27769G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.1814-72G>T	ENSP00000382323.2:n.1814-72G>T
ENST00000399397.6:c.1778-72G>T MANE Select	ENSP00000382329.2:n.1778-72G>T
ENST00000399391.6:c.1814-72G>T	ENSP00000382323.2:n.1814-72G>T
ENST00000399397.5:c.1778-72G>T	ENSP00000382329.2:n.1778-72G>T
ENST00000498332.5:n.1684-72G>T
NM_001277269.1:c.1814-72G>T	NP_001264198.1:n.1814-72G>T
NM_001292063.1:c.1778-72G>T	NP_001278992.1:n.1778-72G>T
NM_001277269.2:c.1814-72G>T	NP_001264198.1:n.1814-72G>T
NM_001292063.2:c.1778-72G>T MANE Select	NP_001278992.1:n.1778-72G>T