Canonical Allele Identifier: CA473305781

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612693-C-T
• MyVariant Identifiers: chr11:g.17634240C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612693C>T , CM000673.2:g.17612693C>T	GRCh38
NC_000011.9:g.17634240C>T , CM000673.1:g.17634240C>T	GRCh37
NC_000011.8:g.17590816C>T	NCBI36
NG_033191.1:g.70321C>T
NG_033191.2:g.70321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6402C>T	ENSP00000382323.2:p.Ala2134=
ENST00000399397.6:c.6366C>T MANE Select	ENSP00000382329.2:p.Ala2122=
ENST00000342528.2:c.3420C>T	ENSP00000341666.2:p.Ala1140=
ENST00000399391.6:c.6402C>T	ENSP00000382323.2:p.Ala2134=
ENST00000399397.5:c.6366C>T	ENSP00000382329.2:p.Ala2122=
NM_001277269.1:c.6402C>T	NP_001264198.1:p.Ala2134=
NM_001292063.1:c.6366C>T	NP_001278992.1:p.Ala2122=
NM_001277269.2:c.6402C>T	NP_001264198.1:p.Ala2134=
NM_001292063.2:c.6366C>T MANE Select	NP_001278992.1:p.Ala2122=