Canonical Allele Identifier: CA379804226

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612641-A-C
• MyVariant Identifiers: chr11:g.17634188A>C (hg19) ; chr11:g.17612641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612641A>C , CM000673.2:g.17612641A>C	GRCh38
NC_000011.9:g.17634188A>C , CM000673.1:g.17634188A>C	GRCh37
NC_000011.8:g.17590764A>C	NCBI36
NG_033191.1:g.70269A>C
NG_033191.2:g.70269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6350A>C	ENSP00000382323.2:p.Asp2117Ala
ENST00000399397.6:c.6314A>C MANE Select	ENSP00000382329.2:p.Asp2105Ala
ENST00000342528.2:c.3368A>C	ENSP00000341666.2:p.Asp1123Ala
ENST00000399391.6:c.6350A>C	ENSP00000382323.2:p.Asp2117Ala
ENST00000399397.5:c.6314A>C	ENSP00000382329.2:p.Asp2105Ala
NM_001277269.1:c.6350A>C	NP_001264198.1:p.Asp2117Ala
NM_001292063.1:c.6314A>C	NP_001278992.1:p.Asp2105Ala
NM_001277269.2:c.6350A>C	NP_001264198.1:p.Asp2117Ala
NM_001292063.2:c.6314A>C MANE Select	NP_001278992.1:p.Asp2105Ala