Canonical Allele Identifier: CA480823731

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752659T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358879T>A , CM000674.2:g.80358879T>A	GRCh38
NC_000012.11:g.80752659T>A , CM000674.1:g.80752659T>A	GRCh37
NC_000012.10:g.79276790T>A	NCBI36
NG_033008.1:g.154427T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6246T>A MANE Select	ENSP00000447211.2:p.Leu2082=
ENST00000642294.1:c.186T>A	ENSP00000493572.1:p.Leu62=
ENST00000646859.1:c.6111T>A	ENSP00000496036.1:p.Leu2037=
ENST00000298820.7:c.1527+104T>A
ENST00000458043.6:c.6219T>A	ENSP00000400895.2:p.Leu2073=
ENST00000546620.5:n.502T>A
ENST00000547103.5:c.6183T>A	ENSP00000447211.1:p.Leu2061=
ENST00000550182.2:c.270T>A	ENSP00000449641.1:p.Leu90=
ENST00000551340.5:c.374T>A
NM_173591.3:c.6219T>A	NP_775862.3:p.Leu2073=
XM_005268802.2:c.6270T>A	XP_005268859.1:p.Leu2090=
XM_011538191.1:c.6270T>A	XP_011536493.1:p.Leu2090=
XM_011538192.1:c.6117T>A	XP_011536494.1:p.Leu2039=
XM_011538193.1:c.5904T>A	XP_011536495.1:p.Leu1968=
XM_005268802.3:c.6270T>A	XP_005268859.1:p.Leu2090=
XM_011538192.2:c.6117T>A	XP_011536494.1:p.Leu2039=
NM_001368062.1:c.6084T>A	NP_001354991.1:p.Leu2028=
NM_001368062.3:c.6111T>A	NP_001354991.2:p.Leu2037=
NM_001378609.3:c.6246T>A MANE Select	NP_001365538.2:p.Leu2082=
NM_001378610.3:c.6246T>A	NP_001365539.2:p.Leu2082=
NM_173591.7:c.6246T>A	NP_775862.4:p.Leu2082=