Canonical Allele Identifier: CA480822185
Gene: OTOGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80752125C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358345C>T , CM000674.2:g.80358345C>T GRCh38
NC_000012.11:g.80752125C>T , CM000674.1:g.80752125C>T GRCh37
NC_000012.10:g.79276256C>T NCBI36
NG_033008.1:g.153893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6117C>T MANE Select ENSP00000447211.2:p.Tyr2039=
ENST00000642294.1:c.57C>T ENSP00000493572.1:p.Tyr19=
ENST00000646859.1:c.5982C>T ENSP00000496036.1:p.Tyr1994=
ENST00000298820.7:c.1418C>T
ENST00000458043.6:c.6090C>T ENSP00000400895.2:p.Tyr2030=
ENST00000546620.5:n.373C>T
ENST00000547103.5:c.6054C>T ENSP00000447211.1:p.Tyr2018=
ENST00000550182.2:c.141C>T ENSP00000449641.1:p.Tyr47=
ENST00000551340.5:c.245C>T
NM_173591.3:c.6090C>T NP_775862.3:p.Tyr2030=
XM_005268802.2:c.6141C>T XP_005268859.1:p.Tyr2047=
XM_011538191.1:c.6141C>T XP_011536493.1:p.Tyr2047=
XM_011538192.1:c.5988C>T XP_011536494.1:p.Tyr1996=
XM_011538193.1:c.5775C>T XP_011536495.1:p.Tyr1925=
XM_005268802.3:c.6141C>T XP_005268859.1:p.Tyr2047=
XM_011538192.2:c.5988C>T XP_011536494.1:p.Tyr1996=
NM_001368062.1:c.5955C>T NP_001354991.1:p.Tyr1985=
NM_001368062.3:c.5982C>T NP_001354991.2:p.Tyr1994=
NM_001378609.3:c.6117C>T MANE Select NP_001365538.2:p.Tyr2039=
NM_001378610.3:c.6117C>T NP_001365539.2:p.Tyr2039=
NM_173591.7:c.6117C>T NP_775862.4:p.Tyr2039=