Canonical Allele Identifier: CA385888804

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752517A>T (hg19) ; chr12:g.80358737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358737A>T , CM000674.2:g.80358737A>T	GRCh38
NC_000012.11:g.80752517A>T , CM000674.1:g.80752517A>T	GRCh37
NC_000012.10:g.79276648A>T	NCBI36
NG_033008.1:g.154285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6188A>T MANE Select	ENSP00000447211.2:p.Glu2063Val
ENST00000642294.1:c.128A>T	ENSP00000493572.1:p.Glu43Val
ENST00000646859.1:c.6053A>T	ENSP00000496036.1:p.Glu2018Val
ENST00000298820.7:c.1489A>T
ENST00000458043.6:c.6161A>T	ENSP00000400895.2:p.Glu2054Val
ENST00000546620.5:n.444A>T
ENST00000547103.5:c.6125A>T	ENSP00000447211.1:p.Glu2042Val
ENST00000550182.2:c.212A>T	ENSP00000449641.1:p.Glu71Val
ENST00000551340.5:c.316A>T
NM_173591.3:c.6161A>T	NP_775862.3:p.Glu2054Val
XM_005268802.2:c.6212A>T	XP_005268859.1:p.Glu2071Val
XM_011538191.1:c.6212A>T	XP_011536493.1:p.Glu2071Val
XM_011538192.1:c.6059A>T	XP_011536494.1:p.Glu2020Val
XM_011538193.1:c.5846A>T	XP_011536495.1:p.Glu1949Val
XM_005268802.3:c.6212A>T	XP_005268859.1:p.Glu2071Val
XM_011538192.2:c.6059A>T	XP_011536494.1:p.Glu2020Val
NM_001368062.1:c.6026A>T	NP_001354991.1:p.Glu2009Val
NM_001368062.3:c.6053A>T	NP_001354991.2:p.Glu2018Val
NM_001378609.3:c.6188A>T MANE Select	NP_001365538.2:p.Glu2063Val
NM_001378610.3:c.6188A>T	NP_001365539.2:p.Glu2063Val
NM_173591.7:c.6188A>T	NP_775862.4:p.Glu2063Val