Canonical Allele Identifier: CA385888875
Gene: OTOGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358770A>G , CM000674.2:g.80358770A>G GRCh38
NC_000012.11:g.80752550A>G , CM000674.1:g.80752550A>G GRCh37
NC_000012.10:g.79276681A>G NCBI36
NG_033008.1:g.154318A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6221A>G MANE Select ENSP00000447211.2:p.His2074Arg
ENST00000642294.1:c.161A>G ENSP00000493572.1:p.His54Arg
ENST00000646859.1:c.6086A>G ENSP00000496036.1:p.His2029Arg
ENST00000298820.7:c.1522A>G
ENST00000458043.6:c.6194A>G ENSP00000400895.2:p.His2065Arg
ENST00000546620.5:n.477A>G
ENST00000547103.5:c.6158A>G ENSP00000447211.1:p.His2053Arg
ENST00000550182.2:c.245A>G ENSP00000449641.1:p.His82Arg
ENST00000551340.5:c.349A>G
NM_173591.3:c.6194A>G NP_775862.3:p.His2065Arg
XM_005268802.2:c.6245A>G XP_005268859.1:p.His2082Arg
XM_011538191.1:c.6245A>G XP_011536493.1:p.His2082Arg
XM_011538192.1:c.6092A>G XP_011536494.1:p.His2031Arg
XM_011538193.1:c.5879A>G XP_011536495.1:p.His1960Arg
XM_005268802.3:c.6245A>G XP_005268859.1:p.His2082Arg
XM_011538192.2:c.6092A>G XP_011536494.1:p.His2031Arg
NM_001368062.1:c.6059A>G NP_001354991.1:p.His2020Arg
NM_001368062.3:c.6086A>G NP_001354991.2:p.His2029Arg
NM_001378609.3:c.6221A>G MANE Select NP_001365538.2:p.His2074Arg
NM_001378610.3:c.6221A>G NP_001365539.2:p.His2074Arg
NM_173591.7:c.6221A>G NP_775862.4:p.His2074Arg