Canonical Allele Identifier: CA385888882

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752552T>G (hg19) ; chr12:g.80358772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358772T>G , CM000674.2:g.80358772T>G	GRCh38
NC_000012.11:g.80752552T>G , CM000674.1:g.80752552T>G	GRCh37
NC_000012.10:g.79276683T>G	NCBI36
NG_033008.1:g.154320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6223T>G MANE Select	ENSP00000447211.2:p.Cys2075Gly
ENST00000642294.1:c.163T>G	ENSP00000493572.1:p.Cys55Gly
ENST00000646859.1:c.6088T>G	ENSP00000496036.1:p.Cys2030Gly
ENST00000298820.7:c.1524T>G
ENST00000458043.6:c.6196T>G	ENSP00000400895.2:p.Cys2066Gly
ENST00000546620.5:n.479T>G
ENST00000547103.5:c.6160T>G	ENSP00000447211.1:p.Cys2054Gly
ENST00000550182.2:c.247T>G	ENSP00000449641.1:p.Cys83Gly
ENST00000551340.5:c.351T>G
NM_173591.3:c.6196T>G	NP_775862.3:p.Cys2066Gly
XM_005268802.2:c.6247T>G	XP_005268859.1:p.Cys2083Gly
XM_011538191.1:c.6247T>G	XP_011536493.1:p.Cys2083Gly
XM_011538192.1:c.6094T>G	XP_011536494.1:p.Cys2032Gly
XM_011538193.1:c.5881T>G	XP_011536495.1:p.Cys1961Gly
XM_005268802.3:c.6247T>G	XP_005268859.1:p.Cys2083Gly
XM_011538192.2:c.6094T>G	XP_011536494.1:p.Cys2032Gly
NM_001368062.1:c.6061T>G	NP_001354991.1:p.Cys2021Gly
NM_001368062.3:c.6088T>G	NP_001354991.2:p.Cys2030Gly
NM_001378609.3:c.6223T>G MANE Select	NP_001365538.2:p.Cys2075Gly
NM_001378610.3:c.6223T>G	NP_001365539.2:p.Cys2075Gly
NM_173591.7:c.6223T>G	NP_775862.4:p.Cys2075Gly