Canonical Allele Identifier: CA379812980
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635119G>T , CM000673.2:g.17635119G>T GRCh38
NC_000011.9:g.17656666G>T , CM000673.1:g.17656666G>T GRCh37
NC_000011.8:g.17613242G>T NCBI36
NG_033191.1:g.92747G>T
NG_033191.2:g.92747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7661G>T ENSP00000382323.2:p.Ser2554Ile
ENST00000399397.6:c.7625G>T MANE Select ENSP00000382329.2:p.Ser2542Ile
ENST00000342528.2:c.4322-491G>T ENSP00000341666.2:n.4322-491G>T
ENST00000399391.6:c.7661G>T ENSP00000382323.2:p.Ser2554Ile
ENST00000399397.5:c.7625G>T ENSP00000382329.2:p.Ser2542Ile
NM_001277269.1:c.7661G>T NP_001264198.1:p.Ser2554Ile
NM_001292063.1:c.7625G>T NP_001278992.1:p.Ser2542Ile
NM_001277269.2:c.7661G>T NP_001264198.1:p.Ser2554Ile
NM_001292063.2:c.7625G>T MANE Select NP_001278992.1:p.Ser2542Ile