Canonical Allele Identifier: CA385888635

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358349-G-A
• MyVariant Identifiers: chr12:g.80752129G>A (hg19) ; chr12:g.80358349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358349G>A , CM000674.2:g.80358349G>A	GRCh38
NC_000012.11:g.80752129G>A , CM000674.1:g.80752129G>A	GRCh37
NC_000012.10:g.79276260G>A	NCBI36
NG_033008.1:g.153897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6121G>A MANE Select	ENSP00000447211.2:p.Val2041Ile
ENST00000642294.1:c.61G>A	ENSP00000493572.1:p.Val21Ile
ENST00000646859.1:c.5986G>A	ENSP00000496036.1:p.Val1996Ile
ENST00000298820.7:c.1422G>A
ENST00000458043.6:c.6094G>A	ENSP00000400895.2:p.Val2032Ile
ENST00000546620.5:n.377G>A
ENST00000547103.5:c.6058G>A	ENSP00000447211.1:p.Val2020Ile
ENST00000550182.2:c.145G>A	ENSP00000449641.1:p.Val49Ile
ENST00000551340.5:c.249G>A
NM_173591.3:c.6094G>A	NP_775862.3:p.Val2032Ile
XM_005268802.2:c.6145G>A	XP_005268859.1:p.Val2049Ile
XM_011538191.1:c.6145G>A	XP_011536493.1:p.Val2049Ile
XM_011538192.1:c.5992G>A	XP_011536494.1:p.Val1998Ile
XM_011538193.1:c.5779G>A	XP_011536495.1:p.Val1927Ile
XM_005268802.3:c.6145G>A	XP_005268859.1:p.Val2049Ile
XM_011538192.2:c.5992G>A	XP_011536494.1:p.Val1998Ile
NM_001368062.1:c.5959G>A	NP_001354991.1:p.Val1987Ile
NM_001368062.3:c.5986G>A	NP_001354991.2:p.Val1996Ile
NM_001378609.3:c.6121G>A MANE Select	NP_001365538.2:p.Val2041Ile
NM_001378610.3:c.6121G>A	NP_001365539.2:p.Val2041Ile
NM_173591.7:c.6121G>A	NP_775862.4:p.Val2041Ile