Canonical Allele Identifier: CA473516768

Gene: OTOG

Linked Data

• ClinVar Variation Id: 505189
• ClinVar RCV Id: RCV000609980
• dbSNP Id: rs1554967816
• gnomAD v4: 11-17553438-G-T
• MyVariant Identifiers: chr11:g.17574985G>T (hg19) ; chr11:g.17553438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553438G>T , CM000673.2:g.17553438G>T	GRCh38
NC_000011.9:g.17574985G>T , CM000673.1:g.17574985G>T	GRCh37
NC_000011.8:g.17531561G>T	NCBI36
NG_033191.1:g.11066G>T
NG_033191.2:g.11066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.495G>T	ENSP00000382323.2:p.Gly165=
ENST00000399397.6:c.459G>T MANE Select	ENSP00000382329.2:p.Gly153=
ENST00000399391.6:c.495G>T	ENSP00000382323.2:p.Gly165=
ENST00000399397.5:c.459G>T	ENSP00000382329.2:p.Gly153=
ENST00000428619.1:c.276G>T	ENSP00000399057.2:p.Gly92=
ENST00000498332.5:n.365G>T
NM_001277269.1:c.495G>T	NP_001264198.1:p.Gly165=
NM_001292063.1:c.459G>T	NP_001278992.1:p.Gly153=
NM_001277269.2:c.495G>T	NP_001264198.1:p.Gly165=
NM_001292063.2:c.459G>T MANE Select	NP_001278992.1:p.Gly153=