Canonical Allele Identifier: CA480823086

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752467T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358687T>A , CM000674.2:g.80358687T>A	GRCh38
NC_000012.11:g.80752467T>A , CM000674.1:g.80752467T>A	GRCh37
NC_000012.10:g.79276598T>A	NCBI36
NG_033008.1:g.154235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6138T>A MANE Select	ENSP00000447211.2:p.Leu2046=
ENST00000642294.1:c.78T>A	ENSP00000493572.1:p.Leu26=
ENST00000646859.1:c.6003T>A	ENSP00000496036.1:p.Leu2001=
ENST00000298820.7:c.1439T>A
ENST00000458043.6:c.6111T>A	ENSP00000400895.2:p.Leu2037=
ENST00000546620.5:n.394T>A
ENST00000547103.5:c.6075T>A	ENSP00000447211.1:p.Leu2025=
ENST00000550182.2:c.162T>A	ENSP00000449641.1:p.Leu54=
ENST00000551340.5:c.266T>A
NM_173591.3:c.6111T>A	NP_775862.3:p.Leu2037=
XM_005268802.2:c.6162T>A	XP_005268859.1:p.Leu2054=
XM_011538191.1:c.6162T>A	XP_011536493.1:p.Leu2054=
XM_011538192.1:c.6009T>A	XP_011536494.1:p.Leu2003=
XM_011538193.1:c.5796T>A	XP_011536495.1:p.Leu1932=
XM_005268802.3:c.6162T>A	XP_005268859.1:p.Leu2054=
XM_011538192.2:c.6009T>A	XP_011536494.1:p.Leu2003=
NM_001368062.1:c.5976T>A	NP_001354991.1:p.Leu1992=
NM_001368062.3:c.6003T>A	NP_001354991.2:p.Leu2001=
NM_001378609.3:c.6138T>A MANE Select	NP_001365538.2:p.Leu2046=
NM_001378610.3:c.6138T>A	NP_001365539.2:p.Leu2046=
NM_173591.7:c.6138T>A	NP_775862.4:p.Leu2046=