Canonical Allele Identifier: CA385888964

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752669A>T (hg19) ; chr12:g.80358889A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358889A>T , CM000674.2:g.80358889A>T	GRCh38
NC_000012.11:g.80752669A>T , CM000674.1:g.80752669A>T	GRCh37
NC_000012.10:g.79276800A>T	NCBI36
NG_033008.1:g.154437A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6256A>T MANE Select	ENSP00000447211.2:p.Thr2086Ser
ENST00000642294.1:c.196A>T	ENSP00000493572.1:p.Thr66Ser
ENST00000646859.1:c.6121A>T	ENSP00000496036.1:p.Thr2041Ser
ENST00000298820.7:c.1527+114A>T
ENST00000458043.6:c.6229A>T	ENSP00000400895.2:p.Thr2077Ser
ENST00000546620.5:n.512A>T
ENST00000547103.5:c.6193A>T	ENSP00000447211.1:p.Thr2065Ser
ENST00000550182.2:c.280A>T	ENSP00000449641.1:p.Thr94Ser
ENST00000551340.5:c.384A>T
NM_173591.3:c.6229A>T	NP_775862.3:p.Thr2077Ser
XM_005268802.2:c.6280A>T	XP_005268859.1:p.Thr2094Ser
XM_011538191.1:c.6280A>T	XP_011536493.1:p.Thr2094Ser
XM_011538192.1:c.6127A>T	XP_011536494.1:p.Thr2043Ser
XM_011538193.1:c.5914A>T	XP_011536495.1:p.Thr1972Ser
XM_005268802.3:c.6280A>T	XP_005268859.1:p.Thr2094Ser
XM_011538192.2:c.6127A>T	XP_011536494.1:p.Thr2043Ser
NM_001368062.1:c.6094A>T	NP_001354991.1:p.Thr2032Ser
NM_001368062.3:c.6121A>T	NP_001354991.2:p.Thr2041Ser
NM_001378609.3:c.6256A>T MANE Select	NP_001365538.2:p.Thr2086Ser
NM_001378610.3:c.6256A>T	NP_001365539.2:p.Thr2086Ser
NM_173591.7:c.6256A>T	NP_775862.4:p.Thr2086Ser