Canonical Allele Identifier: CA385888697

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752472C>A (hg19) ; chr12:g.80358692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358692C>A , CM000674.2:g.80358692C>A	GRCh38
NC_000012.11:g.80752472C>A , CM000674.1:g.80752472C>A	GRCh37
NC_000012.10:g.79276603C>A	NCBI36
NG_033008.1:g.154240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6143C>A MANE Select	ENSP00000447211.2:p.Pro2048His
ENST00000642294.1:c.83C>A	ENSP00000493572.1:p.Pro28His
ENST00000646859.1:c.6008C>A	ENSP00000496036.1:p.Pro2003His
ENST00000298820.7:c.1444C>A
ENST00000458043.6:c.6116C>A	ENSP00000400895.2:p.Pro2039His
ENST00000546620.5:n.399C>A
ENST00000547103.5:c.6080C>A	ENSP00000447211.1:p.Pro2027His
ENST00000550182.2:c.167C>A	ENSP00000449641.1:p.Pro56His
ENST00000551340.5:c.271C>A
NM_173591.3:c.6116C>A	NP_775862.3:p.Pro2039His
XM_005268802.2:c.6167C>A	XP_005268859.1:p.Pro2056His
XM_011538191.1:c.6167C>A	XP_011536493.1:p.Pro2056His
XM_011538192.1:c.6014C>A	XP_011536494.1:p.Pro2005His
XM_011538193.1:c.5801C>A	XP_011536495.1:p.Pro1934His
XM_005268802.3:c.6167C>A	XP_005268859.1:p.Pro2056His
XM_011538192.2:c.6014C>A	XP_011536494.1:p.Pro2005His
NM_001368062.1:c.5981C>A	NP_001354991.1:p.Pro1994His
NM_001368062.3:c.6008C>A	NP_001354991.2:p.Pro2003His
NM_001378609.3:c.6143C>A MANE Select	NP_001365538.2:p.Pro2048His
NM_001378610.3:c.6143C>A	NP_001365539.2:p.Pro2048His
NM_173591.7:c.6143C>A	NP_775862.4:p.Pro2048His