Canonical Allele Identifier: CA2620016990

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358479-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358479G>A , CM000674.2:g.80358479G>A	GRCh38
NC_000012.11:g.80752259G>A , CM000674.1:g.80752259G>A	GRCh37
NC_000012.10:g.79276390G>A	NCBI36
NG_033008.1:g.154027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6121+130G>A MANE Select	ENSP00000447211.2:n.6121+130G>A
ENST00000642294.1:c.61+130G>A	ENSP00000493572.1:n.61+130G>A
ENST00000646859.1:c.5986+130G>A	ENSP00000496036.1:n.5986+130G>A
ENST00000298820.7:c.1422+130G>A
ENST00000458043.6:c.6094+130G>A	ENSP00000400895.2:n.6094+130G>A
ENST00000546620.5:n.377+130G>A
ENST00000547103.5:c.6058+130G>A	ENSP00000447211.1:n.6058+130G>A
ENST00000550182.2:c.145+130G>A	ENSP00000449641.1:n.145+130G>A
ENST00000551340.5:c.249+130G>A
NM_173591.3:c.6094+130G>A	NP_775862.3:n.6094+130G>A
XM_005268802.2:c.6145+130G>A	XP_005268859.1:n.6145+130G>A
XM_011538191.1:c.6145+130G>A	XP_011536493.1:n.6145+130G>A
XM_011538192.1:c.5992+130G>A	XP_011536494.1:n.5992+130G>A
XM_011538193.1:c.5779+130G>A	XP_011536495.1:n.5779+130G>A
XM_005268802.3:c.6145+130G>A	XP_005268859.1:n.6145+130G>A
XM_011538192.2:c.5992+130G>A	XP_011536494.1:n.5992+130G>A
NM_001368062.1:c.5959+130G>A	NP_001354991.1:n.5959+130G>A
NM_001368062.3:c.5986+130G>A	NP_001354991.2:n.5986+130G>A
NM_001378609.3:c.6121+130G>A MANE Select	NP_001365538.2:n.6121+130G>A
NM_001378610.3:c.6121+130G>A	NP_001365539.2:n.6121+130G>A
NM_173591.7:c.6121+130G>A	NP_775862.4:n.6121+130G>A