Canonical Allele Identifier: CA385888785

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752510G>A (hg19) ; chr12:g.80358730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358730G>A , CM000674.2:g.80358730G>A	GRCh38
NC_000012.11:g.80752510G>A , CM000674.1:g.80752510G>A	GRCh37
NC_000012.10:g.79276641G>A	NCBI36
NG_033008.1:g.154278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6181G>A MANE Select	ENSP00000447211.2:p.Val2061Met
ENST00000642294.1:c.121G>A	ENSP00000493572.1:p.Val41Met
ENST00000646859.1:c.6046G>A	ENSP00000496036.1:p.Val2016Met
ENST00000298820.7:c.1482G>A
ENST00000458043.6:c.6154G>A	ENSP00000400895.2:p.Val2052Met
ENST00000546620.5:n.437G>A
ENST00000547103.5:c.6118G>A	ENSP00000447211.1:p.Val2040Met
ENST00000550182.2:c.205G>A	ENSP00000449641.1:p.Val69Met
ENST00000551340.5:c.309G>A
NM_173591.3:c.6154G>A	NP_775862.3:p.Val2052Met
XM_005268802.2:c.6205G>A	XP_005268859.1:p.Val2069Met
XM_011538191.1:c.6205G>A	XP_011536493.1:p.Val2069Met
XM_011538192.1:c.6052G>A	XP_011536494.1:p.Val2018Met
XM_011538193.1:c.5839G>A	XP_011536495.1:p.Val1947Met
XM_005268802.3:c.6205G>A	XP_005268859.1:p.Val2069Met
XM_011538192.2:c.6052G>A	XP_011536494.1:p.Val2018Met
NM_001368062.1:c.6019G>A	NP_001354991.1:p.Val2007Met
NM_001368062.3:c.6046G>A	NP_001354991.2:p.Val2016Met
NM_001378609.3:c.6181G>A MANE Select	NP_001365538.2:p.Val2061Met
NM_001378610.3:c.6181G>A	NP_001365539.2:p.Val2061Met
NM_173591.7:c.6181G>A	NP_775862.4:p.Val2061Met