Canonical Allele Identifier: CA379812633
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17634888C>T , CM000673.2:g.17634888C>T GRCh38
NC_000011.9:g.17656435C>T , CM000673.1:g.17656435C>T GRCh37
NC_000011.8:g.17613011C>T NCBI36
NG_033191.1:g.92516C>T
NG_033191.2:g.92516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7561C>T ENSP00000382323.2:p.Pro2521Ser
ENST00000399397.6:c.7525C>T MANE Select ENSP00000382329.2:p.Pro2509Ser
ENST00000342528.2:c.4322-722C>T ENSP00000341666.2:n.4322-722C>T
ENST00000399391.6:c.7561C>T ENSP00000382323.2:p.Pro2521Ser
ENST00000399397.5:c.7525C>T ENSP00000382329.2:p.Pro2509Ser
NM_001277269.1:c.7561C>T NP_001264198.1:p.Pro2521Ser
NM_001292063.1:c.7525C>T NP_001278992.1:p.Pro2509Ser
NM_001277269.2:c.7561C>T NP_001264198.1:p.Pro2521Ser
NM_001292063.2:c.7525C>T MANE Select NP_001278992.1:p.Pro2509Ser