Canonical Allele Identifier: CA385888951

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752662T>G (hg19) ; chr12:g.80358882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358882T>G , CM000674.2:g.80358882T>G	GRCh38
NC_000012.11:g.80752662T>G , CM000674.1:g.80752662T>G	GRCh37
NC_000012.10:g.79276793T>G	NCBI36
NG_033008.1:g.154430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6249T>G MANE Select	ENSP00000447211.2:p.Ile2083Met
ENST00000642294.1:c.189T>G	ENSP00000493572.1:p.Ile63Met
ENST00000646859.1:c.6114T>G	ENSP00000496036.1:p.Ile2038Met
ENST00000298820.7:c.1527+107T>G
ENST00000458043.6:c.6222T>G	ENSP00000400895.2:p.Ile2074Met
ENST00000546620.5:n.505T>G
ENST00000547103.5:c.6186T>G	ENSP00000447211.1:p.Ile2062Met
ENST00000550182.2:c.273T>G	ENSP00000449641.1:p.Ile91Met
ENST00000551340.5:c.377T>G
NM_173591.3:c.6222T>G	NP_775862.3:p.Ile2074Met
XM_005268802.2:c.6273T>G	XP_005268859.1:p.Ile2091Met
XM_011538191.1:c.6273T>G	XP_011536493.1:p.Ile2091Met
XM_011538192.1:c.6120T>G	XP_011536494.1:p.Ile2040Met
XM_011538193.1:c.5907T>G	XP_011536495.1:p.Ile1969Met
XM_005268802.3:c.6273T>G	XP_005268859.1:p.Ile2091Met
XM_011538192.2:c.6120T>G	XP_011536494.1:p.Ile2040Met
NM_001368062.1:c.6087T>G	NP_001354991.1:p.Ile2029Met
NM_001368062.3:c.6114T>G	NP_001354991.2:p.Ile2038Met
NM_001378609.3:c.6249T>G MANE Select	NP_001365538.2:p.Ile2083Met
NM_001378610.3:c.6249T>G	NP_001365539.2:p.Ile2083Met
NM_173591.7:c.6249T>G	NP_775862.4:p.Ile2083Met