Canonical Allele Identifier: CA218490169

Gene: OTOG

Linked Data

• dbSNP Id: rs1030011828
• gnomAD v2: 11-17574998-C-T
• gnomAD v3: 11-17553451-C-T
• gnomAD v4: 11-17553451-C-T
• MyVariant Identifiers: chr11:g.17574998C>T (hg19) ; chr11:g.17553451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553451C>T , CM000673.2:g.17553451C>T	GRCh38
NC_000011.9:g.17574998C>T , CM000673.1:g.17574998C>T	GRCh37
NC_000011.8:g.17531574C>T	NCBI36
NG_033191.1:g.11079C>T
NG_033191.2:g.11079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.508C>T	ENSP00000382323.2:p.Leu170Phe
ENST00000399397.6:c.472C>T MANE Select	ENSP00000382329.2:p.Leu158Phe
ENST00000399391.6:c.508C>T	ENSP00000382323.2:p.Leu170Phe
ENST00000399397.5:c.472C>T	ENSP00000382329.2:p.Leu158Phe
ENST00000498332.5:n.378C>T
NM_001277269.1:c.508C>T	NP_001264198.1:p.Leu170Phe
NM_001292063.1:c.472C>T	NP_001278992.1:p.Leu158Phe
NM_001277269.2:c.508C>T	NP_001264198.1:p.Leu170Phe
NM_001292063.2:c.472C>T MANE Select	NP_001278992.1:p.Leu158Phe