Canonical Allele Identifier: CA480823320

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752509T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358729T>G , CM000674.2:g.80358729T>G	GRCh38
NC_000012.11:g.80752509T>G , CM000674.1:g.80752509T>G	GRCh37
NC_000012.10:g.79276640T>G	NCBI36
NG_033008.1:g.154277T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6180T>G MANE Select	ENSP00000447211.2:p.Leu2060=
ENST00000642294.1:c.120T>G	ENSP00000493572.1:p.Leu40=
ENST00000646859.1:c.6045T>G	ENSP00000496036.1:p.Leu2015=
ENST00000298820.7:c.1481T>G
ENST00000458043.6:c.6153T>G	ENSP00000400895.2:p.Leu2051=
ENST00000546620.5:n.436T>G
ENST00000547103.5:c.6117T>G	ENSP00000447211.1:p.Leu2039=
ENST00000550182.2:c.204T>G	ENSP00000449641.1:p.Leu68=
ENST00000551340.5:c.308T>G
NM_173591.3:c.6153T>G	NP_775862.3:p.Leu2051=
XM_005268802.2:c.6204T>G	XP_005268859.1:p.Leu2068=
XM_011538191.1:c.6204T>G	XP_011536493.1:p.Leu2068=
XM_011538192.1:c.6051T>G	XP_011536494.1:p.Leu2017=
XM_011538193.1:c.5838T>G	XP_011536495.1:p.Leu1946=
XM_005268802.3:c.6204T>G	XP_005268859.1:p.Leu2068=
XM_011538192.2:c.6051T>G	XP_011536494.1:p.Leu2017=
NM_001368062.1:c.6018T>G	NP_001354991.1:p.Leu2006=
NM_001368062.3:c.6045T>G	NP_001354991.2:p.Leu2015=
NM_001378609.3:c.6180T>G MANE Select	NP_001365538.2:p.Leu2060=
NM_001378610.3:c.6180T>G	NP_001365539.2:p.Leu2060=
NM_173591.7:c.6180T>G	NP_775862.4:p.Leu2060=