Canonical Allele Identifier: CA385888755

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752497A>T (hg19) ; chr12:g.80358717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358717A>T , CM000674.2:g.80358717A>T	GRCh38
NC_000012.11:g.80752497A>T , CM000674.1:g.80752497A>T	GRCh37
NC_000012.10:g.79276628A>T	NCBI36
NG_033008.1:g.154265A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6168A>T MANE Select	ENSP00000447211.2:p.Glu2056Asp
ENST00000642294.1:c.108A>T	ENSP00000493572.1:p.Glu36Asp
ENST00000646859.1:c.6033A>T	ENSP00000496036.1:p.Glu2011Asp
ENST00000298820.7:c.1469A>T
ENST00000458043.6:c.6141A>T	ENSP00000400895.2:p.Glu2047Asp
ENST00000546620.5:n.424A>T
ENST00000547103.5:c.6105A>T	ENSP00000447211.1:p.Glu2035Asp
ENST00000550182.2:c.192A>T	ENSP00000449641.1:p.Glu64Asp
ENST00000551340.5:c.296A>T
NM_173591.3:c.6141A>T	NP_775862.3:p.Glu2047Asp
XM_005268802.2:c.6192A>T	XP_005268859.1:p.Glu2064Asp
XM_011538191.1:c.6192A>T	XP_011536493.1:p.Glu2064Asp
XM_011538192.1:c.6039A>T	XP_011536494.1:p.Glu2013Asp
XM_011538193.1:c.5826A>T	XP_011536495.1:p.Glu1942Asp
XM_005268802.3:c.6192A>T	XP_005268859.1:p.Glu2064Asp
XM_011538192.2:c.6039A>T	XP_011536494.1:p.Glu2013Asp
NM_001368062.1:c.6006A>T	NP_001354991.1:p.Glu2002Asp
NM_001368062.3:c.6033A>T	NP_001354991.2:p.Glu2011Asp
NM_001378609.3:c.6168A>T MANE Select	NP_001365538.2:p.Glu2056Asp
NM_001378610.3:c.6168A>T	NP_001365539.2:p.Glu2056Asp
NM_173591.7:c.6168A>T	NP_775862.4:p.Glu2056Asp