Canonical Allele Identifier: CA385888988

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752679T>A (hg19) ; chr12:g.80358899T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358899T>A , CM000674.2:g.80358899T>A	GRCh38
NC_000012.11:g.80752679T>A , CM000674.1:g.80752679T>A	GRCh37
NC_000012.10:g.79276810T>A	NCBI36
NG_033008.1:g.154447T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6266T>A MANE Select	ENSP00000447211.2:p.Val2089Glu
ENST00000642294.1:c.206T>A	ENSP00000493572.1:p.Val69Glu
ENST00000646859.1:c.6131T>A	ENSP00000496036.1:p.Val2044Glu
ENST00000298820.7:c.1527+124T>A
ENST00000458043.6:c.6239T>A	ENSP00000400895.2:p.Val2080Glu
ENST00000546620.5:n.522T>A
ENST00000547103.5:c.6203T>A	ENSP00000447211.1:p.Val2068Glu
ENST00000550182.2:c.290T>A	ENSP00000449641.1:p.Val97Glu
ENST00000551340.5:c.394T>A
NM_173591.3:c.6239T>A	NP_775862.3:p.Val2080Glu
XM_005268802.2:c.6290T>A	XP_005268859.1:p.Val2097Glu
XM_011538191.1:c.6290T>A	XP_011536493.1:p.Val2097Glu
XM_011538192.1:c.6137T>A	XP_011536494.1:p.Val2046Glu
XM_011538193.1:c.5924T>A	XP_011536495.1:p.Val1975Glu
XM_005268802.3:c.6290T>A	XP_005268859.1:p.Val2097Glu
XM_011538192.2:c.6137T>A	XP_011536494.1:p.Val2046Glu
NM_001368062.1:c.6104T>A	NP_001354991.1:p.Val2035Glu
NM_001368062.3:c.6131T>A	NP_001354991.2:p.Val2044Glu
NM_001378609.3:c.6266T>A MANE Select	NP_001365538.2:p.Val2089Glu
NM_001378610.3:c.6266T>A	NP_001365539.2:p.Val2089Glu
NM_173591.7:c.6266T>A	NP_775862.4:p.Val2089Glu