Canonical Allele Identifier: CA385888919

Gene: OTOGL

Linked Data

• COSMIC: COSM5634132 ; COSM5634133
• MyVariant Identifiers: chr12:g.80752648T>A (hg19) ; chr12:g.80358868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358868T>A , CM000674.2:g.80358868T>A	GRCh38
NC_000012.11:g.80752648T>A , CM000674.1:g.80752648T>A	GRCh37
NC_000012.10:g.79276779T>A	NCBI36
NG_033008.1:g.154416T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6235T>A MANE Select	ENSP00000447211.2:p.Cys2079Ser
ENST00000642294.1:c.175T>A	ENSP00000493572.1:p.Cys59Ser
ENST00000646859.1:c.6100T>A	ENSP00000496036.1:p.Cys2034Ser
ENST00000298820.7:c.1527+93T>A
ENST00000458043.6:c.6208T>A	ENSP00000400895.2:p.Cys2070Ser
ENST00000546620.5:n.491T>A
ENST00000547103.5:c.6172T>A	ENSP00000447211.1:p.Cys2058Ser
ENST00000550182.2:c.259T>A	ENSP00000449641.1:p.Cys87Ser
ENST00000551340.5:c.363T>A
NM_173591.3:c.6208T>A	NP_775862.3:p.Cys2070Ser
XM_005268802.2:c.6259T>A	XP_005268859.1:p.Cys2087Ser
XM_011538191.1:c.6259T>A	XP_011536493.1:p.Cys2087Ser
XM_011538192.1:c.6106T>A	XP_011536494.1:p.Cys2036Ser
XM_011538193.1:c.5893T>A	XP_011536495.1:p.Cys1965Ser
XM_005268802.3:c.6259T>A	XP_005268859.1:p.Cys2087Ser
XM_011538192.2:c.6106T>A	XP_011536494.1:p.Cys2036Ser
NM_001368062.1:c.6073T>A	NP_001354991.1:p.Cys2025Ser
NM_001368062.3:c.6100T>A	NP_001354991.2:p.Cys2034Ser
NM_001378609.3:c.6235T>A MANE Select	NP_001365538.2:p.Cys2079Ser
NM_001378610.3:c.6235T>A	NP_001365539.2:p.Cys2079Ser
NM_173591.7:c.6235T>A	NP_775862.4:p.Cys2079Ser