Canonical Allele Identifier: CA385888794

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752514A>T (hg19) ; chr12:g.80358734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358734A>T , CM000674.2:g.80358734A>T	GRCh38
NC_000012.11:g.80752514A>T , CM000674.1:g.80752514A>T	GRCh37
NC_000012.10:g.79276645A>T	NCBI36
NG_033008.1:g.154282A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6185A>T MANE Select	ENSP00000447211.2:p.Lys2062Ile
ENST00000642294.1:c.125A>T	ENSP00000493572.1:p.Lys42Ile
ENST00000646859.1:c.6050A>T	ENSP00000496036.1:p.Lys2017Ile
ENST00000298820.7:c.1486A>T
ENST00000458043.6:c.6158A>T	ENSP00000400895.2:p.Lys2053Ile
ENST00000546620.5:n.441A>T
ENST00000547103.5:c.6122A>T	ENSP00000447211.1:p.Lys2041Ile
ENST00000550182.2:c.209A>T	ENSP00000449641.1:p.Lys70Ile
ENST00000551340.5:c.313A>T
NM_173591.3:c.6158A>T	NP_775862.3:p.Lys2053Ile
XM_005268802.2:c.6209A>T	XP_005268859.1:p.Lys2070Ile
XM_011538191.1:c.6209A>T	XP_011536493.1:p.Lys2070Ile
XM_011538192.1:c.6056A>T	XP_011536494.1:p.Lys2019Ile
XM_011538193.1:c.5843A>T	XP_011536495.1:p.Lys1948Ile
XM_005268802.3:c.6209A>T	XP_005268859.1:p.Lys2070Ile
XM_011538192.2:c.6056A>T	XP_011536494.1:p.Lys2019Ile
NM_001368062.1:c.6023A>T	NP_001354991.1:p.Lys2008Ile
NM_001368062.3:c.6050A>T	NP_001354991.2:p.Lys2017Ile
NM_001378609.3:c.6185A>T MANE Select	NP_001365538.2:p.Lys2062Ile
NM_001378610.3:c.6185A>T	NP_001365539.2:p.Lys2062Ile
NM_173591.7:c.6185A>T	NP_775862.4:p.Lys2062Ile