Canonical Allele Identifier: CA385888689

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358689-G-A
• MyVariant Identifiers: chr12:g.80752469G>A (hg19) ; chr12:g.80358689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358689G>A , CM000674.2:g.80358689G>A	GRCh38
NC_000012.11:g.80752469G>A , CM000674.1:g.80752469G>A	GRCh37
NC_000012.10:g.79276600G>A	NCBI36
NG_033008.1:g.154237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6140G>A MANE Select	ENSP00000447211.2:p.Cys2047Tyr
ENST00000642294.1:c.80G>A	ENSP00000493572.1:p.Cys27Tyr
ENST00000646859.1:c.6005G>A	ENSP00000496036.1:p.Cys2002Tyr
ENST00000298820.7:c.1441G>A
ENST00000458043.6:c.6113G>A	ENSP00000400895.2:p.Cys2038Tyr
ENST00000546620.5:n.396G>A
ENST00000547103.5:c.6077G>A	ENSP00000447211.1:p.Cys2026Tyr
ENST00000550182.2:c.164G>A	ENSP00000449641.1:p.Cys55Tyr
ENST00000551340.5:c.268G>A
NM_173591.3:c.6113G>A	NP_775862.3:p.Cys2038Tyr
XM_005268802.2:c.6164G>A	XP_005268859.1:p.Cys2055Tyr
XM_011538191.1:c.6164G>A	XP_011536493.1:p.Cys2055Tyr
XM_011538192.1:c.6011G>A	XP_011536494.1:p.Cys2004Tyr
XM_011538193.1:c.5798G>A	XP_011536495.1:p.Cys1933Tyr
XM_005268802.3:c.6164G>A	XP_005268859.1:p.Cys2055Tyr
XM_011538192.2:c.6011G>A	XP_011536494.1:p.Cys2004Tyr
NM_001368062.1:c.5978G>A	NP_001354991.1:p.Cys1993Tyr
NM_001368062.3:c.6005G>A	NP_001354991.2:p.Cys2002Tyr
NM_001378609.3:c.6140G>A MANE Select	NP_001365538.2:p.Cys2047Tyr
NM_001378610.3:c.6140G>A	NP_001365539.2:p.Cys2047Tyr
NM_173591.7:c.6140G>A	NP_775862.4:p.Cys2047Tyr