Canonical Allele Identifier: CA240239739

Gene: OTOGL

Linked Data

• dbSNP Id: rs1045175344
• gnomAD v4: 12-80358773-G-A
• MyVariant Identifiers: chr12:g.80752553G>A (hg19) ; chr12:g.80358773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358773G>A , CM000674.2:g.80358773G>A	GRCh38
NC_000012.11:g.80752553G>A , CM000674.1:g.80752553G>A	GRCh37
NC_000012.10:g.79276684G>A	NCBI36
NG_033008.1:g.154321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6224G>A MANE Select	ENSP00000447211.2:p.Cys2075Tyr
ENST00000642294.1:c.164G>A	ENSP00000493572.1:p.Cys55Tyr
ENST00000646859.1:c.6089G>A	ENSP00000496036.1:p.Cys2030Tyr
ENST00000298820.7:c.1525G>A
ENST00000458043.6:c.6197G>A	ENSP00000400895.2:p.Cys2066Tyr
ENST00000546620.5:n.480G>A
ENST00000547103.5:c.6161G>A	ENSP00000447211.1:p.Cys2054Tyr
ENST00000550182.2:c.248G>A	ENSP00000449641.1:p.Cys83Tyr
ENST00000551340.5:c.352G>A
NM_173591.3:c.6197G>A	NP_775862.3:p.Cys2066Tyr
XM_005268802.2:c.6248G>A	XP_005268859.1:p.Cys2083Tyr
XM_011538191.1:c.6248G>A	XP_011536493.1:p.Cys2083Tyr
XM_011538192.1:c.6095G>A	XP_011536494.1:p.Cys2032Tyr
XM_011538193.1:c.5882G>A	XP_011536495.1:p.Cys1961Tyr
XM_005268802.3:c.6248G>A	XP_005268859.1:p.Cys2083Tyr
XM_011538192.2:c.6095G>A	XP_011536494.1:p.Cys2032Tyr
NM_001368062.1:c.6062G>A	NP_001354991.1:p.Cys2021Tyr
NM_001368062.3:c.6089G>A	NP_001354991.2:p.Cys2030Tyr
NM_001378609.3:c.6224G>A MANE Select	NP_001365538.2:p.Cys2075Tyr
NM_001378610.3:c.6224G>A	NP_001365539.2:p.Cys2075Tyr
NM_173591.7:c.6224G>A	NP_775862.4:p.Cys2075Tyr