Canonical Allele Identifier: CA379788550
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642246G>T , CM000673.2:g.17642246G>T GRCh38
NC_000011.9:g.17663793G>T , CM000673.1:g.17663793G>T GRCh37
NC_000011.8:g.17620369G>T NCBI36
NG_033191.1:g.99874G>T
NG_033191.2:g.99874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8451G>T ENSP00000382323.2:p.Lys2817Asn
ENST00000399397.6:c.8415G>T MANE Select ENSP00000382329.2:p.Lys2805Asn
ENST00000399391.6:c.8451G>T ENSP00000382323.2:p.Lys2817Asn
ENST00000399397.5:c.8415G>T ENSP00000382329.2:p.Lys2805Asn
NM_001277269.1:c.8451G>T NP_001264198.1:p.Lys2817Asn
NM_001292063.1:c.8415G>T NP_001278992.1:p.Lys2805Asn
NM_001277269.2:c.8451G>T NP_001264198.1:p.Lys2817Asn
NM_001292063.2:c.8415G>T MANE Select NP_001278992.1:p.Lys2805Asn