Canonical Allele Identifier: CA385888646

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 522356
• ClinVar RCV Id: RCV000625469
• dbSNP Id: rs952235302
• gnomAD v3: 12-80358670-G-A
• gnomAD v4: 12-80358670-G-A
• MyVariant Identifiers: chr12:g.80752450G>A (hg19) ; chr12:g.80358670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358670G>A , CM000674.2:g.80358670G>A	GRCh38
NC_000012.11:g.80752450G>A , CM000674.1:g.80752450G>A	GRCh37
NC_000012.10:g.79276581G>A	NCBI36
NG_033008.1:g.154218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547103.7:c.6122-1G>A MANE Select	ENSP00000447211.2:n.6122-1G>A
ENST00000642294.1:c.62-1G>A	ENSP00000493572.1:n.62-1G>A
ENST00000646859.1:c.5987-1G>A	ENSP00000496036.1:n.5987-1G>A
ENST00000298820.7:c.1423-1G>A
ENST00000458043.6:c.6095-1G>A	ENSP00000400895.2:n.6095-1G>A
ENST00000546620.5:n.378-1G>A
ENST00000547103.5:c.6059-1G>A	ENSP00000447211.1:n.6059-1G>A
ENST00000550182.2:c.146-1G>A	ENSP00000449641.1:n.146-1G>A
ENST00000551340.5:c.250-1G>A
NM_173591.3:c.6095-1G>A	NP_775862.3:n.6095-1G>A
XM_005268802.2:c.6146-1G>A	XP_005268859.1:n.6146-1G>A
XM_011538191.1:c.6146-1G>A	XP_011536493.1:n.6146-1G>A
XM_011538192.1:c.5993-1G>A	XP_011536494.1:n.5993-1G>A
XM_011538193.1:c.5780-1G>A	XP_011536495.1:n.5780-1G>A
XM_005268802.3:c.6146-1G>A	XP_005268859.1:n.6146-1G>A
XM_011538192.2:c.5993-1G>A	XP_011536494.1:n.5993-1G>A
NM_001368062.1:c.5960-1G>A	NP_001354991.1:n.5960-1G>A
NM_001368062.3:c.5987-1G>A	NP_001354991.2:n.5987-1G>A
NM_001378609.3:c.6122-1G>A MANE Select	NP_001365538.2:n.6122-1G>A
NM_001378610.3:c.6122-1G>A	NP_001365539.2:n.6122-1G>A
NM_173591.7:c.6122-1G>A	NP_775862.4:n.6122-1G>A