Canonical Allele Identifier: CA385888879

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752551C>G (hg19) ; chr12:g.80358771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358771C>G , CM000674.2:g.80358771C>G	GRCh38
NC_000012.11:g.80752551C>G , CM000674.1:g.80752551C>G	GRCh37
NC_000012.10:g.79276682C>G	NCBI36
NG_033008.1:g.154319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6222C>G MANE Select	ENSP00000447211.2:p.His2074Gln
ENST00000642294.1:c.162C>G	ENSP00000493572.1:p.His54Gln
ENST00000646859.1:c.6087C>G	ENSP00000496036.1:p.His2029Gln
ENST00000298820.7:c.1523C>G
ENST00000458043.6:c.6195C>G	ENSP00000400895.2:p.His2065Gln
ENST00000546620.5:n.478C>G
ENST00000547103.5:c.6159C>G	ENSP00000447211.1:p.His2053Gln
ENST00000550182.2:c.246C>G	ENSP00000449641.1:p.His82Gln
ENST00000551340.5:c.350C>G
NM_173591.3:c.6195C>G	NP_775862.3:p.His2065Gln
XM_005268802.2:c.6246C>G	XP_005268859.1:p.His2082Gln
XM_011538191.1:c.6246C>G	XP_011536493.1:p.His2082Gln
XM_011538192.1:c.6093C>G	XP_011536494.1:p.His2031Gln
XM_011538193.1:c.5880C>G	XP_011536495.1:p.His1960Gln
XM_005268802.3:c.6246C>G	XP_005268859.1:p.His2082Gln
XM_011538192.2:c.6093C>G	XP_011536494.1:p.His2031Gln
NM_001368062.1:c.6060C>G	NP_001354991.1:p.His2020Gln
NM_001368062.3:c.6087C>G	NP_001354991.2:p.His2029Gln
NM_001378609.3:c.6222C>G MANE Select	NP_001365538.2:p.His2074Gln
NM_001378610.3:c.6222C>G	NP_001365539.2:p.His2074Gln
NM_173591.7:c.6222C>G	NP_775862.4:p.His2074Gln