Canonical Allele Identifier: CA6701953

Gene: OTOGL

Linked Data

• dbSNP Id: rs763853419
• ExAC: 12:80752651 G / A
• gnomAD v2: 12-80752651-G-A
• gnomAD v3: 12-80358871-G-A
• gnomAD v4: 12-80358871-G-A
• MyVariant Identifiers: chr12:g.80752651G>A (hg19) ; chr12:g.80358871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358871G>A , CM000674.2:g.80358871G>A	GRCh38
NC_000012.11:g.80752651G>A , CM000674.1:g.80752651G>A	GRCh37
NC_000012.10:g.79276782G>A	NCBI36
NG_033008.1:g.154419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6238G>A MANE Select	ENSP00000447211.2:p.Glu2080Lys
ENST00000642294.1:c.178G>A	ENSP00000493572.1:p.Glu60Lys
ENST00000646859.1:c.6103G>A	ENSP00000496036.1:p.Glu2035Lys
ENST00000298820.7:c.1527+96G>A
ENST00000458043.6:c.6211G>A	ENSP00000400895.2:p.Glu2071Lys
ENST00000546620.5:n.494G>A
ENST00000547103.5:c.6175G>A	ENSP00000447211.1:p.Glu2059Lys
ENST00000550182.2:c.262G>A	ENSP00000449641.1:p.Glu88Lys
ENST00000551340.5:c.366G>A
NM_173591.3:c.6211G>A	NP_775862.3:p.Glu2071Lys
XM_005268802.2:c.6262G>A	XP_005268859.1:p.Glu2088Lys
XM_011538191.1:c.6262G>A	XP_011536493.1:p.Glu2088Lys
XM_011538192.1:c.6109G>A	XP_011536494.1:p.Glu2037Lys
XM_011538193.1:c.5896G>A	XP_011536495.1:p.Glu1966Lys
XM_005268802.3:c.6262G>A	XP_005268859.1:p.Glu2088Lys
XM_011538192.2:c.6109G>A	XP_011536494.1:p.Glu2037Lys
NM_001368062.1:c.6076G>A	NP_001354991.1:p.Glu2026Lys
NM_001368062.3:c.6103G>A	NP_001354991.2:p.Glu2035Lys
NM_001378609.3:c.6238G>A MANE Select	NP_001365538.2:p.Glu2080Lys
NM_001378610.3:c.6238G>A	NP_001365539.2:p.Glu2080Lys
NM_173591.7:c.6238G>A	NP_775862.4:p.Glu2080Lys