Canonical Allele Identifier: CA385888772
Gene: OTOGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358724A>C , CM000674.2:g.80358724A>C GRCh38
NC_000012.11:g.80752504A>C , CM000674.1:g.80752504A>C GRCh37
NC_000012.10:g.79276635A>C NCBI36
NG_033008.1:g.154272A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6175A>C MANE Select ENSP00000447211.2:p.Asn2059His
ENST00000642294.1:c.115A>C ENSP00000493572.1:p.Asn39His
ENST00000646859.1:c.6040A>C ENSP00000496036.1:p.Asn2014His
ENST00000298820.7:c.1476A>C
ENST00000458043.6:c.6148A>C ENSP00000400895.2:p.Asn2050His
ENST00000546620.5:n.431A>C
ENST00000547103.5:c.6112A>C ENSP00000447211.1:p.Asn2038His
ENST00000550182.2:c.199A>C ENSP00000449641.1:p.Asn67His
ENST00000551340.5:c.303A>C
NM_173591.3:c.6148A>C NP_775862.3:p.Asn2050His
XM_005268802.2:c.6199A>C XP_005268859.1:p.Asn2067His
XM_011538191.1:c.6199A>C XP_011536493.1:p.Asn2067His
XM_011538192.1:c.6046A>C XP_011536494.1:p.Asn2016His
XM_011538193.1:c.5833A>C XP_011536495.1:p.Asn1945His
XM_005268802.3:c.6199A>C XP_005268859.1:p.Asn2067His
XM_011538192.2:c.6046A>C XP_011536494.1:p.Asn2016His
NM_001368062.1:c.6013A>C NP_001354991.1:p.Asn2005His
NM_001368062.3:c.6040A>C NP_001354991.2:p.Asn2014His
NM_001378609.3:c.6175A>C MANE Select NP_001365538.2:p.Asn2059His
NM_001378610.3:c.6175A>C NP_001365539.2:p.Asn2059His
NM_173591.7:c.6175A>C NP_775862.4:p.Asn2059His