Canonical Allele Identifier: CA379797531
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17610359G>C , CM000673.2:g.17610359G>C GRCh38
NC_000011.9:g.17631906G>C , CM000673.1:g.17631906G>C GRCh37
NC_000011.8:g.17588482G>C NCBI36
NG_033191.1:g.67987G>C
NG_033191.2:g.67987G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.5095G>C ENSP00000382323.2:p.Ala1699Pro
ENST00000399397.6:c.5059G>C MANE Select ENSP00000382329.2:p.Ala1687Pro
ENST00000342528.2:c.2113G>C ENSP00000341666.2:p.Ala705Pro
ENST00000399391.6:c.5095G>C ENSP00000382323.2:p.Ala1699Pro
ENST00000399397.5:c.5059G>C ENSP00000382329.2:p.Ala1687Pro
NM_001277269.1:c.5095G>C NP_001264198.1:p.Ala1699Pro
NM_001292063.1:c.5059G>C NP_001278992.1:p.Ala1687Pro
NM_001277269.2:c.5095G>C NP_001264198.1:p.Ala1699Pro
NM_001292063.2:c.5059G>C MANE Select NP_001278992.1:p.Ala1687Pro