Canonical Allele Identifier: CA480823821

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358897-A-G
• MyVariant Identifiers: chr12:g.80752677A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358897A>G , CM000674.2:g.80358897A>G	GRCh38
NC_000012.11:g.80752677A>G , CM000674.1:g.80752677A>G	GRCh37
NC_000012.10:g.79276808A>G	NCBI36
NG_033008.1:g.154445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6264A>G MANE Select	ENSP00000447211.2:p.Glu2088=
ENST00000642294.1:c.204A>G	ENSP00000493572.1:p.Glu68=
ENST00000646859.1:c.6129A>G	ENSP00000496036.1:p.Glu2043=
ENST00000298820.7:c.1527+122A>G
ENST00000458043.6:c.6237A>G	ENSP00000400895.2:p.Glu2079=
ENST00000546620.5:n.520A>G
ENST00000547103.5:c.6201A>G	ENSP00000447211.1:p.Glu2067=
ENST00000550182.2:c.288A>G	ENSP00000449641.1:p.Glu96=
ENST00000551340.5:c.392A>G
NM_173591.3:c.6237A>G	NP_775862.3:p.Glu2079=
XM_005268802.2:c.6288A>G	XP_005268859.1:p.Glu2096=
XM_011538191.1:c.6288A>G	XP_011536493.1:p.Glu2096=
XM_011538192.1:c.6135A>G	XP_011536494.1:p.Glu2045=
XM_011538193.1:c.5922A>G	XP_011536495.1:p.Glu1974=
XM_005268802.3:c.6288A>G	XP_005268859.1:p.Glu2096=
XM_011538192.2:c.6135A>G	XP_011536494.1:p.Glu2045=
NM_001368062.1:c.6102A>G	NP_001354991.1:p.Glu2034=
NM_001368062.3:c.6129A>G	NP_001354991.2:p.Glu2043=
NM_001378609.3:c.6264A>G MANE Select	NP_001365538.2:p.Glu2088=
NM_001378610.3:c.6264A>G	NP_001365539.2:p.Glu2088=
NM_173591.7:c.6264A>G	NP_775862.4:p.Glu2088=