Canonical Allele Identifier: CA480823338

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752512G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358732G>T , CM000674.2:g.80358732G>T	GRCh38
NC_000012.11:g.80752512G>T , CM000674.1:g.80752512G>T	GRCh37
NC_000012.10:g.79276643G>T	NCBI36
NG_033008.1:g.154280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6183G>T MANE Select	ENSP00000447211.2:p.Val2061=
ENST00000642294.1:c.123G>T	ENSP00000493572.1:p.Val41=
ENST00000646859.1:c.6048G>T	ENSP00000496036.1:p.Val2016=
ENST00000298820.7:c.1484G>T
ENST00000458043.6:c.6156G>T	ENSP00000400895.2:p.Val2052=
ENST00000546620.5:n.439G>T
ENST00000547103.5:c.6120G>T	ENSP00000447211.1:p.Val2040=
ENST00000550182.2:c.207G>T	ENSP00000449641.1:p.Val69=
ENST00000551340.5:c.311G>T
NM_173591.3:c.6156G>T	NP_775862.3:p.Val2052=
XM_005268802.2:c.6207G>T	XP_005268859.1:p.Val2069=
XM_011538191.1:c.6207G>T	XP_011536493.1:p.Val2069=
XM_011538192.1:c.6054G>T	XP_011536494.1:p.Val2018=
XM_011538193.1:c.5841G>T	XP_011536495.1:p.Val1947=
XM_005268802.3:c.6207G>T	XP_005268859.1:p.Val2069=
XM_011538192.2:c.6054G>T	XP_011536494.1:p.Val2018=
NM_001368062.1:c.6021G>T	NP_001354991.1:p.Val2007=
NM_001368062.3:c.6048G>T	NP_001354991.2:p.Val2016=
NM_001378609.3:c.6183G>T MANE Select	NP_001365538.2:p.Val2061=
NM_001378610.3:c.6183G>T	NP_001365539.2:p.Val2061=
NM_173591.7:c.6183G>T	NP_775862.4:p.Val2061=