Canonical Allele Identifier: CA385888620

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752123T>C (hg19) ; chr12:g.80358343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358343T>C , CM000674.2:g.80358343T>C	GRCh38
NC_000012.11:g.80752123T>C , CM000674.1:g.80752123T>C	GRCh37
NC_000012.10:g.79276254T>C	NCBI36
NG_033008.1:g.153891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6115T>C MANE Select	ENSP00000447211.2:p.Tyr2039His
ENST00000642294.1:c.55T>C	ENSP00000493572.1:p.Tyr19His
ENST00000646859.1:c.5980T>C	ENSP00000496036.1:p.Tyr1994His
ENST00000298820.7:c.1416T>C
ENST00000458043.6:c.6088T>C	ENSP00000400895.2:p.Tyr2030His
ENST00000546620.5:n.371T>C
ENST00000547103.5:c.6052T>C	ENSP00000447211.1:p.Tyr2018His
ENST00000550182.2:c.139T>C	ENSP00000449641.1:p.Tyr47His
ENST00000551340.5:c.243T>C
NM_173591.3:c.6088T>C	NP_775862.3:p.Tyr2030His
XM_005268802.2:c.6139T>C	XP_005268859.1:p.Tyr2047His
XM_011538191.1:c.6139T>C	XP_011536493.1:p.Tyr2047His
XM_011538192.1:c.5986T>C	XP_011536494.1:p.Tyr1996His
XM_011538193.1:c.5773T>C	XP_011536495.1:p.Tyr1925His
XM_005268802.3:c.6139T>C	XP_005268859.1:p.Tyr2047His
XM_011538192.2:c.5986T>C	XP_011536494.1:p.Tyr1996His
NM_001368062.1:c.5953T>C	NP_001354991.1:p.Tyr1985His
NM_001368062.3:c.5980T>C	NP_001354991.2:p.Tyr1994His
NM_001378609.3:c.6115T>C MANE Select	NP_001365538.2:p.Tyr2039His
NM_001378610.3:c.6115T>C	NP_001365539.2:p.Tyr2039His
NM_173591.7:c.6115T>C	NP_775862.4:p.Tyr2039His