Canonical Allele Identifier: CA473300178

Gene: OTOG

Linked Data

• dbSNP Id: rs2023483
• gnomAD v2: 11-17663742-G-T
• gnomAD v4: 11-17642195-G-T
• MyVariant Identifiers: chr11:g.17663742G>T (hg19) ; chr11:g.17642195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17642195G>T , CM000673.2:g.17642195G>T	GRCh38
NC_000011.9:g.17663742G>T , CM000673.1:g.17663742G>T	GRCh37
NC_000011.8:g.17620318G>T	NCBI36
NG_033191.1:g.99823G>T
NG_033191.2:g.99823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.8400G>T	ENSP00000382323.2:p.Leu2800=
ENST00000399397.6:c.8364G>T MANE Select	ENSP00000382329.2:p.Leu2788=
ENST00000399391.6:c.8400G>T	ENSP00000382323.2:p.Leu2800=
ENST00000399397.5:c.8364G>T	ENSP00000382329.2:p.Leu2788=
NM_001277269.1:c.8400G>T	NP_001264198.1:p.Leu2800=
NM_001292063.1:c.8364G>T	NP_001278992.1:p.Leu2788=
NM_001277269.2:c.8400G>T	NP_001264198.1:p.Leu2800=
NM_001292063.2:c.8364G>T MANE Select	NP_001278992.1:p.Leu2788=