Canonical Allele Identifier: CA385888946

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752658T>G (hg19) ; chr12:g.80358878T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358878T>G , CM000674.2:g.80358878T>G	GRCh38
NC_000012.11:g.80752658T>G , CM000674.1:g.80752658T>G	GRCh37
NC_000012.10:g.79276789T>G	NCBI36
NG_033008.1:g.154426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6245T>G MANE Select	ENSP00000447211.2:p.Leu2082Arg
ENST00000642294.1:c.185T>G	ENSP00000493572.1:p.Leu62Arg
ENST00000646859.1:c.6110T>G	ENSP00000496036.1:p.Leu2037Arg
ENST00000298820.7:c.1527+103T>G
ENST00000458043.6:c.6218T>G	ENSP00000400895.2:p.Leu2073Arg
ENST00000546620.5:n.501T>G
ENST00000547103.5:c.6182T>G	ENSP00000447211.1:p.Leu2061Arg
ENST00000550182.2:c.269T>G	ENSP00000449641.1:p.Leu90Arg
ENST00000551340.5:c.373T>G
NM_173591.3:c.6218T>G	NP_775862.3:p.Leu2073Arg
XM_005268802.2:c.6269T>G	XP_005268859.1:p.Leu2090Arg
XM_011538191.1:c.6269T>G	XP_011536493.1:p.Leu2090Arg
XM_011538192.1:c.6116T>G	XP_011536494.1:p.Leu2039Arg
XM_011538193.1:c.5903T>G	XP_011536495.1:p.Leu1968Arg
XM_005268802.3:c.6269T>G	XP_005268859.1:p.Leu2090Arg
XM_011538192.2:c.6116T>G	XP_011536494.1:p.Leu2039Arg
NM_001368062.1:c.6083T>G	NP_001354991.1:p.Leu2028Arg
NM_001368062.3:c.6110T>G	NP_001354991.2:p.Leu2037Arg
NM_001378609.3:c.6245T>G MANE Select	NP_001365538.2:p.Leu2082Arg
NM_001378610.3:c.6245T>G	NP_001365539.2:p.Leu2082Arg
NM_173591.7:c.6245T>G	NP_775862.4:p.Leu2082Arg