Canonical Allele Identifier: CA385888622

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752124A>T (hg19) ; chr12:g.80358344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358344A>T , CM000674.2:g.80358344A>T	GRCh38
NC_000012.11:g.80752124A>T , CM000674.1:g.80752124A>T	GRCh37
NC_000012.10:g.79276255A>T	NCBI36
NG_033008.1:g.153892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6116A>T MANE Select	ENSP00000447211.2:p.Tyr2039Phe
ENST00000642294.1:c.56A>T	ENSP00000493572.1:p.Tyr19Phe
ENST00000646859.1:c.5981A>T	ENSP00000496036.1:p.Tyr1994Phe
ENST00000298820.7:c.1417A>T
ENST00000458043.6:c.6089A>T	ENSP00000400895.2:p.Tyr2030Phe
ENST00000546620.5:n.372A>T
ENST00000547103.5:c.6053A>T	ENSP00000447211.1:p.Tyr2018Phe
ENST00000550182.2:c.140A>T	ENSP00000449641.1:p.Tyr47Phe
ENST00000551340.5:c.244A>T
NM_173591.3:c.6089A>T	NP_775862.3:p.Tyr2030Phe
XM_005268802.2:c.6140A>T	XP_005268859.1:p.Tyr2047Phe
XM_011538191.1:c.6140A>T	XP_011536493.1:p.Tyr2047Phe
XM_011538192.1:c.5987A>T	XP_011536494.1:p.Tyr1996Phe
XM_011538193.1:c.5774A>T	XP_011536495.1:p.Tyr1925Phe
XM_005268802.3:c.6140A>T	XP_005268859.1:p.Tyr2047Phe
XM_011538192.2:c.5987A>T	XP_011536494.1:p.Tyr1996Phe
NM_001368062.1:c.5954A>T	NP_001354991.1:p.Tyr1985Phe
NM_001368062.3:c.5981A>T	NP_001354991.2:p.Tyr1994Phe
NM_001378609.3:c.6116A>T MANE Select	NP_001365538.2:p.Tyr2039Phe
NM_001378610.3:c.6116A>T	NP_001365539.2:p.Tyr2039Phe
NM_173591.7:c.6116A>T	NP_775862.4:p.Tyr2039Phe