Canonical Allele Identifier: CA385888608

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358338-A-G
• MyVariant Identifiers: chr12:g.80752118A>G (hg19) ; chr12:g.80358338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358338A>G , CM000674.2:g.80358338A>G	GRCh38
NC_000012.11:g.80752118A>G , CM000674.1:g.80752118A>G	GRCh37
NC_000012.10:g.79276249A>G	NCBI36
NG_033008.1:g.153886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6110A>G MANE Select	ENSP00000447211.2:p.Gln2037Arg
ENST00000642294.1:c.50A>G	ENSP00000493572.1:p.Gln17Arg
ENST00000646859.1:c.5975A>G	ENSP00000496036.1:p.Gln1992Arg
ENST00000298820.7:c.1411A>G
ENST00000458043.6:c.6083A>G	ENSP00000400895.2:p.Gln2028Arg
ENST00000546620.5:n.366A>G
ENST00000547103.5:c.6047A>G	ENSP00000447211.1:p.Gln2016Arg
ENST00000550182.2:c.134A>G	ENSP00000449641.1:p.Gln45Arg
ENST00000551340.5:c.238A>G
NM_173591.3:c.6083A>G	NP_775862.3:p.Gln2028Arg
XM_005268802.2:c.6134A>G	XP_005268859.1:p.Gln2045Arg
XM_011538191.1:c.6134A>G	XP_011536493.1:p.Gln2045Arg
XM_011538192.1:c.5981A>G	XP_011536494.1:p.Gln1994Arg
XM_011538193.1:c.5768A>G	XP_011536495.1:p.Gln1923Arg
XM_005268802.3:c.6134A>G	XP_005268859.1:p.Gln2045Arg
XM_011538192.2:c.5981A>G	XP_011536494.1:p.Gln1994Arg
NM_001368062.1:c.5948A>G	NP_001354991.1:p.Gln1983Arg
NM_001368062.3:c.5975A>G	NP_001354991.2:p.Gln1992Arg
NM_001378609.3:c.6110A>G MANE Select	NP_001365538.2:p.Gln2037Arg
NM_001378610.3:c.6110A>G	NP_001365539.2:p.Gln2037Arg
NM_173591.7:c.6110A>G	NP_775862.4:p.Gln2037Arg