Canonical Allele Identifier: CA16619593
Gene: OTOGL HGNC NCBI

Linked Data

ClinVar Variation Id: 424475
ClinVar RCV Id: RCV000479777
dbSNP Id: rs1064796988

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80355885C>T , CM000674.2:g.80355885C>T GRCh38
NC_000012.11:g.80749665C>T , CM000674.1:g.80749665C>T GRCh37
NC_000012.10:g.79273796C>T NCBI36
NG_033008.1:g.151433C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547103.7:c.5743C>T MANE Select ENSP00000447211.2:p.Arg1915Ter
ENST00000646859.1:c.5608C>T ENSP00000496036.1:p.Arg1870Ter
ENST00000298820.7:c.1044C>T
ENST00000458043.6:c.5716C>T ENSP00000400895.2:p.Arg1906Ter
ENST00000547103.5:c.5680C>T ENSP00000447211.1:p.Arg1894Ter
NM_173591.3:c.5716C>T NP_775862.3:p.Arg1906Ter
XM_005268802.2:c.5767C>T XP_005268859.1:p.Arg1923Ter
XM_011538191.1:c.5767C>T XP_011536493.1:p.Arg1923Ter
XM_011538192.1:c.5614C>T XP_011536494.1:p.Arg1872Ter
XM_011538193.1:c.5401C>T XP_011536495.1:p.Arg1801Ter
XM_005268802.3:c.5767C>T XP_005268859.1:p.Arg1923Ter
XM_011538192.2:c.5614C>T XP_011536494.1:p.Arg1872Ter
NM_001368062.1:c.5581C>T NP_001354991.1:p.Arg1861Ter
NM_001368062.3:c.5608C>T NP_001354991.2:p.Arg1870Ter
NM_001378609.3:c.5743C>T MANE Select NP_001365538.2:p.Arg1915Ter
NM_001378610.3:c.5743C>T NP_001365539.2:p.Arg1915Ter
NM_173591.7:c.5743C>T NP_775862.4:p.Arg1915Ter