Canonical Allele Identifier: CA480823791

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752671T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358891T>A , CM000674.2:g.80358891T>A	GRCh38
NC_000012.11:g.80752671T>A , CM000674.1:g.80752671T>A	GRCh37
NC_000012.10:g.79276802T>A	NCBI36
NG_033008.1:g.154439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6258T>A MANE Select	ENSP00000447211.2:p.Thr2086=
ENST00000642294.1:c.198T>A	ENSP00000493572.1:p.Thr66=
ENST00000646859.1:c.6123T>A	ENSP00000496036.1:p.Thr2041=
ENST00000298820.7:c.1527+116T>A
ENST00000458043.6:c.6231T>A	ENSP00000400895.2:p.Thr2077=
ENST00000546620.5:n.514T>A
ENST00000547103.5:c.6195T>A	ENSP00000447211.1:p.Thr2065=
ENST00000550182.2:c.282T>A	ENSP00000449641.1:p.Thr94=
ENST00000551340.5:c.386T>A
NM_173591.3:c.6231T>A	NP_775862.3:p.Thr2077=
XM_005268802.2:c.6282T>A	XP_005268859.1:p.Thr2094=
XM_011538191.1:c.6282T>A	XP_011536493.1:p.Thr2094=
XM_011538192.1:c.6129T>A	XP_011536494.1:p.Thr2043=
XM_011538193.1:c.5916T>A	XP_011536495.1:p.Thr1972=
XM_005268802.3:c.6282T>A	XP_005268859.1:p.Thr2094=
XM_011538192.2:c.6129T>A	XP_011536494.1:p.Thr2043=
NM_001368062.1:c.6096T>A	NP_001354991.1:p.Thr2032=
NM_001368062.3:c.6123T>A	NP_001354991.2:p.Thr2041=
NM_001378609.3:c.6258T>A MANE Select	NP_001365538.2:p.Thr2086=
NM_001378610.3:c.6258T>A	NP_001365539.2:p.Thr2086=
NM_173591.7:c.6258T>A	NP_775862.4:p.Thr2086=