Canonical Allele Identifier: CA240239674

Gene: OTOGL

Linked Data

• dbSNP Id: rs962629988
• gnomAD v4: 12-80358710-G-T
• MyVariant Identifiers: chr12:g.80752490G>T (hg19) ; chr12:g.80358710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358710G>T , CM000674.2:g.80358710G>T	GRCh38
NC_000012.11:g.80752490G>T , CM000674.1:g.80752490G>T	GRCh37
NC_000012.10:g.79276621G>T	NCBI36
NG_033008.1:g.154258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6161G>T MANE Select	ENSP00000447211.2:p.Cys2054Phe
ENST00000642294.1:c.101G>T	ENSP00000493572.1:p.Cys34Phe
ENST00000646859.1:c.6026G>T	ENSP00000496036.1:p.Cys2009Phe
ENST00000298820.7:c.1462G>T
ENST00000458043.6:c.6134G>T	ENSP00000400895.2:p.Cys2045Phe
ENST00000546620.5:n.417G>T
ENST00000547103.5:c.6098G>T	ENSP00000447211.1:p.Cys2033Phe
ENST00000550182.2:c.185G>T	ENSP00000449641.1:p.Cys62Phe
ENST00000551340.5:c.289G>T
NM_173591.3:c.6134G>T	NP_775862.3:p.Cys2045Phe
XM_005268802.2:c.6185G>T	XP_005268859.1:p.Cys2062Phe
XM_011538191.1:c.6185G>T	XP_011536493.1:p.Cys2062Phe
XM_011538192.1:c.6032G>T	XP_011536494.1:p.Cys2011Phe
XM_011538193.1:c.5819G>T	XP_011536495.1:p.Cys1940Phe
XM_005268802.3:c.6185G>T	XP_005268859.1:p.Cys2062Phe
XM_011538192.2:c.6032G>T	XP_011536494.1:p.Cys2011Phe
NM_001368062.1:c.5999G>T	NP_001354991.1:p.Cys2000Phe
NM_001368062.3:c.6026G>T	NP_001354991.2:p.Cys2009Phe
NM_001378609.3:c.6161G>T MANE Select	NP_001365538.2:p.Cys2054Phe
NM_001378610.3:c.6161G>T	NP_001365539.2:p.Cys2054Phe
NM_173591.7:c.6161G>T	NP_775862.4:p.Cys2054Phe