Canonical Allele Identifier: CA379811374

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553415-C-A
• MyVariant Identifiers: chr11:g.17574962C>A (hg19) ; chr11:g.17553415C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553415C>A , CM000673.2:g.17553415C>A	GRCh38
NC_000011.9:g.17574962C>A , CM000673.1:g.17574962C>A	GRCh37
NC_000011.8:g.17531538C>A	NCBI36
NG_033191.1:g.11043C>A
NG_033191.2:g.11043C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.472C>A	ENSP00000382323.2:p.His158Asn
ENST00000399397.6:c.436C>A MANE Select	ENSP00000382329.2:p.His146Asn
ENST00000399391.6:c.472C>A	ENSP00000382323.2:p.His158Asn
ENST00000399397.5:c.436C>A	ENSP00000382329.2:p.His146Asn
ENST00000428619.1:c.253C>A	ENSP00000399057.2:p.His85Asn
ENST00000498332.5:n.342C>A
NM_001277269.1:c.472C>A	NP_001264198.1:p.His158Asn
NM_001292063.1:c.436C>A	NP_001278992.1:p.His146Asn
NM_001277269.2:c.472C>A	NP_001264198.1:p.His158Asn
NM_001292063.2:c.436C>A MANE Select	NP_001278992.1:p.His146Asn