Canonical Allele Identifier: CA473305619
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1284876856
MyVariant Identifiers: chr11:g.17633861A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612314A>G , CM000673.2:g.17612314A>G GRCh38
NC_000011.9:g.17633861A>G , CM000673.1:g.17633861A>G GRCh37
NC_000011.8:g.17590437A>G NCBI36
NG_033191.1:g.69942A>G
NG_033191.2:g.69942A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6312A>G ENSP00000382323.2:p.Pro2104=
ENST00000399397.6:c.6276A>G MANE Select ENSP00000382329.2:p.Pro2092=
ENST00000342528.2:c.3330A>G ENSP00000341666.2:p.Pro1110=
ENST00000399391.6:c.6312A>G ENSP00000382323.2:p.Pro2104=
ENST00000399397.5:c.6276A>G ENSP00000382329.2:p.Pro2092=
NM_001277269.1:c.6312A>G NP_001264198.1:p.Pro2104=
NM_001292063.1:c.6276A>G NP_001278992.1:p.Pro2092=
NM_001277269.2:c.6312A>G NP_001264198.1:p.Pro2104=
NM_001292063.2:c.6276A>G MANE Select NP_001278992.1:p.Pro2092=