Canonical Allele Identifier: CA385888694

Gene: OTOGL

Linked Data

• COSMIC: COSM1364435 ; COSM1364436
• MyVariant Identifiers: chr12:g.80752471C>A (hg19) ; chr12:g.80358691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358691C>A , CM000674.2:g.80358691C>A	GRCh38
NC_000012.11:g.80752471C>A , CM000674.1:g.80752471C>A	GRCh37
NC_000012.10:g.79276602C>A	NCBI36
NG_033008.1:g.154239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6142C>A MANE Select	ENSP00000447211.2:p.Pro2048Thr
ENST00000642294.1:c.82C>A	ENSP00000493572.1:p.Pro28Thr
ENST00000646859.1:c.6007C>A	ENSP00000496036.1:p.Pro2003Thr
ENST00000298820.7:c.1443C>A
ENST00000458043.6:c.6115C>A	ENSP00000400895.2:p.Pro2039Thr
ENST00000546620.5:n.398C>A
ENST00000547103.5:c.6079C>A	ENSP00000447211.1:p.Pro2027Thr
ENST00000550182.2:c.166C>A	ENSP00000449641.1:p.Pro56Thr
ENST00000551340.5:c.270C>A
NM_173591.3:c.6115C>A	NP_775862.3:p.Pro2039Thr
XM_005268802.2:c.6166C>A	XP_005268859.1:p.Pro2056Thr
XM_011538191.1:c.6166C>A	XP_011536493.1:p.Pro2056Thr
XM_011538192.1:c.6013C>A	XP_011536494.1:p.Pro2005Thr
XM_011538193.1:c.5800C>A	XP_011536495.1:p.Pro1934Thr
XM_005268802.3:c.6166C>A	XP_005268859.1:p.Pro2056Thr
XM_011538192.2:c.6013C>A	XP_011536494.1:p.Pro2005Thr
NM_001368062.1:c.5980C>A	NP_001354991.1:p.Pro1994Thr
NM_001368062.3:c.6007C>A	NP_001354991.2:p.Pro2003Thr
NM_001378609.3:c.6142C>A MANE Select	NP_001365538.2:p.Pro2048Thr
NM_001378610.3:c.6142C>A	NP_001365539.2:p.Pro2048Thr
NM_173591.7:c.6142C>A	NP_775862.4:p.Pro2048Thr