Canonical Allele Identifier: CA385888715

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752480T>A (hg19) ; chr12:g.80358700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358700T>A , CM000674.2:g.80358700T>A	GRCh38
NC_000012.11:g.80752480T>A , CM000674.1:g.80752480T>A	GRCh37
NC_000012.10:g.79276611T>A	NCBI36
NG_033008.1:g.154248T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6151T>A MANE Select	ENSP00000447211.2:p.Leu2051Ile
ENST00000642294.1:c.91T>A	ENSP00000493572.1:p.Leu31Ile
ENST00000646859.1:c.6016T>A	ENSP00000496036.1:p.Leu2006Ile
ENST00000298820.7:c.1452T>A
ENST00000458043.6:c.6124T>A	ENSP00000400895.2:p.Leu2042Ile
ENST00000546620.5:n.407T>A
ENST00000547103.5:c.6088T>A	ENSP00000447211.1:p.Leu2030Ile
ENST00000550182.2:c.175T>A	ENSP00000449641.1:p.Leu59Ile
ENST00000551340.5:c.279T>A
NM_173591.3:c.6124T>A	NP_775862.3:p.Leu2042Ile
XM_005268802.2:c.6175T>A	XP_005268859.1:p.Leu2059Ile
XM_011538191.1:c.6175T>A	XP_011536493.1:p.Leu2059Ile
XM_011538192.1:c.6022T>A	XP_011536494.1:p.Leu2008Ile
XM_011538193.1:c.5809T>A	XP_011536495.1:p.Leu1937Ile
XM_005268802.3:c.6175T>A	XP_005268859.1:p.Leu2059Ile
XM_011538192.2:c.6022T>A	XP_011536494.1:p.Leu2008Ile
NM_001368062.1:c.5989T>A	NP_001354991.1:p.Leu1997Ile
NM_001368062.3:c.6016T>A	NP_001354991.2:p.Leu2006Ile
NM_001378609.3:c.6151T>A MANE Select	NP_001365538.2:p.Leu2051Ile
NM_001378610.3:c.6151T>A	NP_001365539.2:p.Leu2051Ile
NM_173591.7:c.6151T>A	NP_775862.4:p.Leu2051Ile