Canonical Allele Identifier: CA385888969

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358890-C-T
• MyVariant Identifiers: chr12:g.80752670C>T (hg19) ; chr12:g.80358890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358890C>T , CM000674.2:g.80358890C>T	GRCh38
NC_000012.11:g.80752670C>T , CM000674.1:g.80752670C>T	GRCh37
NC_000012.10:g.79276801C>T	NCBI36
NG_033008.1:g.154438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6257C>T MANE Select	ENSP00000447211.2:p.Thr2086Ile
ENST00000642294.1:c.197C>T	ENSP00000493572.1:p.Thr66Ile
ENST00000646859.1:c.6122C>T	ENSP00000496036.1:p.Thr2041Ile
ENST00000298820.7:c.1527+115C>T
ENST00000458043.6:c.6230C>T	ENSP00000400895.2:p.Thr2077Ile
ENST00000546620.5:n.513C>T
ENST00000547103.5:c.6194C>T	ENSP00000447211.1:p.Thr2065Ile
ENST00000550182.2:c.281C>T	ENSP00000449641.1:p.Thr94Ile
ENST00000551340.5:c.385C>T
NM_173591.3:c.6230C>T	NP_775862.3:p.Thr2077Ile
XM_005268802.2:c.6281C>T	XP_005268859.1:p.Thr2094Ile
XM_011538191.1:c.6281C>T	XP_011536493.1:p.Thr2094Ile
XM_011538192.1:c.6128C>T	XP_011536494.1:p.Thr2043Ile
XM_011538193.1:c.5915C>T	XP_011536495.1:p.Thr1972Ile
XM_005268802.3:c.6281C>T	XP_005268859.1:p.Thr2094Ile
XM_011538192.2:c.6128C>T	XP_011536494.1:p.Thr2043Ile
NM_001368062.1:c.6095C>T	NP_001354991.1:p.Thr2032Ile
NM_001368062.3:c.6122C>T	NP_001354991.2:p.Thr2041Ile
NM_001378609.3:c.6257C>T MANE Select	NP_001365538.2:p.Thr2086Ile
NM_001378610.3:c.6257C>T	NP_001365539.2:p.Thr2086Ile
NM_173591.7:c.6257C>T	NP_775862.4:p.Thr2086Ile