Canonical Allele Identifier: CA385888837

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752533A>T (hg19) ; chr12:g.80358753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358753A>T , CM000674.2:g.80358753A>T	GRCh38
NC_000012.11:g.80752533A>T , CM000674.1:g.80752533A>T	GRCh37
NC_000012.10:g.79276664A>T	NCBI36
NG_033008.1:g.154301A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6204A>T MANE Select	ENSP00000447211.2:p.Gln2068His
ENST00000642294.1:c.144A>T	ENSP00000493572.1:p.Gln48His
ENST00000646859.1:c.6069A>T	ENSP00000496036.1:p.Gln2023His
ENST00000298820.7:c.1505A>T
ENST00000458043.6:c.6177A>T	ENSP00000400895.2:p.Gln2059His
ENST00000546620.5:n.460A>T
ENST00000547103.5:c.6141A>T	ENSP00000447211.1:p.Gln2047His
ENST00000550182.2:c.228A>T	ENSP00000449641.1:p.Gln76His
ENST00000551340.5:c.332A>T
NM_173591.3:c.6177A>T	NP_775862.3:p.Gln2059His
XM_005268802.2:c.6228A>T	XP_005268859.1:p.Gln2076His
XM_011538191.1:c.6228A>T	XP_011536493.1:p.Gln2076His
XM_011538192.1:c.6075A>T	XP_011536494.1:p.Gln2025His
XM_011538193.1:c.5862A>T	XP_011536495.1:p.Gln1954His
XM_005268802.3:c.6228A>T	XP_005268859.1:p.Gln2076His
XM_011538192.2:c.6075A>T	XP_011536494.1:p.Gln2025His
NM_001368062.1:c.6042A>T	NP_001354991.1:p.Gln2014His
NM_001368062.3:c.6069A>T	NP_001354991.2:p.Gln2023His
NM_001378609.3:c.6204A>T MANE Select	NP_001365538.2:p.Gln2068His
NM_001378610.3:c.6204A>T	NP_001365539.2:p.Gln2068His
NM_173591.7:c.6204A>T	NP_775862.4:p.Gln2068His