Canonical Allele Identifier: CA385888850

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358758-G-A
• MyVariant Identifiers: chr12:g.80752538G>A (hg19) ; chr12:g.80358758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358758G>A , CM000674.2:g.80358758G>A	GRCh38
NC_000012.11:g.80752538G>A , CM000674.1:g.80752538G>A	GRCh37
NC_000012.10:g.79276669G>A	NCBI36
NG_033008.1:g.154306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6209G>A MANE Select	ENSP00000447211.2:p.Cys2070Tyr
ENST00000642294.1:c.149G>A	ENSP00000493572.1:p.Cys50Tyr
ENST00000646859.1:c.6074G>A	ENSP00000496036.1:p.Cys2025Tyr
ENST00000298820.7:c.1510G>A
ENST00000458043.6:c.6182G>A	ENSP00000400895.2:p.Cys2061Tyr
ENST00000546620.5:n.465G>A
ENST00000547103.5:c.6146G>A	ENSP00000447211.1:p.Cys2049Tyr
ENST00000550182.2:c.233G>A	ENSP00000449641.1:p.Cys78Tyr
ENST00000551340.5:c.337G>A
NM_173591.3:c.6182G>A	NP_775862.3:p.Cys2061Tyr
XM_005268802.2:c.6233G>A	XP_005268859.1:p.Cys2078Tyr
XM_011538191.1:c.6233G>A	XP_011536493.1:p.Cys2078Tyr
XM_011538192.1:c.6080G>A	XP_011536494.1:p.Cys2027Tyr
XM_011538193.1:c.5867G>A	XP_011536495.1:p.Cys1956Tyr
XM_005268802.3:c.6233G>A	XP_005268859.1:p.Cys2078Tyr
XM_011538192.2:c.6080G>A	XP_011536494.1:p.Cys2027Tyr
NM_001368062.1:c.6047G>A	NP_001354991.1:p.Cys2016Tyr
NM_001368062.3:c.6074G>A	NP_001354991.2:p.Cys2025Tyr
NM_001378609.3:c.6209G>A MANE Select	NP_001365538.2:p.Cys2070Tyr
NM_001378610.3:c.6209G>A	NP_001365539.2:p.Cys2070Tyr
NM_173591.7:c.6209G>A	NP_775862.4:p.Cys2070Tyr