Canonical Allele Identifier: CA240239692

Gene: OTOGL

Linked Data

• dbSNP Id: rs377647096
• gnomAD v2: 12-80752493-C-A
• gnomAD v3: 12-80358713-C-A
• gnomAD v4: 12-80358713-C-A
• MyVariant Identifiers: chr12:g.80752493C>A (hg19) ; chr12:g.80358713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358713C>A , CM000674.2:g.80358713C>A	GRCh38
NC_000012.11:g.80752493C>A , CM000674.1:g.80752493C>A	GRCh37
NC_000012.10:g.79276624C>A	NCBI36
NG_033008.1:g.154261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6164C>A MANE Select	ENSP00000447211.2:p.Ala2055Glu
ENST00000642294.1:c.104C>A	ENSP00000493572.1:p.Ala35Glu
ENST00000646859.1:c.6029C>A	ENSP00000496036.1:p.Ala2010Glu
ENST00000298820.7:c.1465C>A
ENST00000458043.6:c.6137C>A	ENSP00000400895.2:p.Ala2046Glu
ENST00000546620.5:n.420C>A
ENST00000547103.5:c.6101C>A	ENSP00000447211.1:p.Ala2034Glu
ENST00000550182.2:c.188C>A	ENSP00000449641.1:p.Ala63Glu
ENST00000551340.5:c.292C>A
NM_173591.3:c.6137C>A	NP_775862.3:p.Ala2046Glu
XM_005268802.2:c.6188C>A	XP_005268859.1:p.Ala2063Glu
XM_011538191.1:c.6188C>A	XP_011536493.1:p.Ala2063Glu
XM_011538192.1:c.6035C>A	XP_011536494.1:p.Ala2012Glu
XM_011538193.1:c.5822C>A	XP_011536495.1:p.Ala1941Glu
XM_005268802.3:c.6188C>A	XP_005268859.1:p.Ala2063Glu
XM_011538192.2:c.6035C>A	XP_011536494.1:p.Ala2012Glu
NM_001368062.1:c.6002C>A	NP_001354991.1:p.Ala2001Glu
NM_001368062.3:c.6029C>A	NP_001354991.2:p.Ala2010Glu
NM_001378609.3:c.6164C>A MANE Select	NP_001365538.2:p.Ala2055Glu
NM_001378610.3:c.6164C>A	NP_001365539.2:p.Ala2055Glu
NM_173591.7:c.6164C>A	NP_775862.4:p.Ala2055Glu