Canonical Allele Identifier: CA379811087
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553379C>G , CM000673.2:g.17553379C>G GRCh38
NC_000011.9:g.17574926C>G , CM000673.1:g.17574926C>G GRCh37
NC_000011.8:g.17531502C>G NCBI36
NG_033191.1:g.11007C>G
NG_033191.2:g.11007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.436C>G ENSP00000382323.2:p.Pro146Ala
ENST00000399397.6:c.400C>G MANE Select ENSP00000382329.2:p.Pro134Ala
ENST00000399391.6:c.436C>G ENSP00000382323.2:p.Pro146Ala
ENST00000399397.5:c.400C>G ENSP00000382329.2:p.Pro134Ala
ENST00000428619.1:c.217C>G ENSP00000399057.2:p.Pro73Ala
ENST00000498332.5:n.306C>G
NM_001277269.1:c.436C>G NP_001264198.1:p.Pro146Ala
NM_001292063.1:c.400C>G NP_001278992.1:p.Pro134Ala
NM_001277269.2:c.436C>G NP_001264198.1:p.Pro146Ala
NM_001292063.2:c.400C>G MANE Select NP_001278992.1:p.Pro134Ala