Canonical Allele Identifier: CA385888730

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358706-A-T
• MyVariant Identifiers: chr12:g.80752486A>T (hg19) ; chr12:g.80358706A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358706A>T , CM000674.2:g.80358706A>T	GRCh38
NC_000012.11:g.80752486A>T , CM000674.1:g.80752486A>T	GRCh37
NC_000012.10:g.79276617A>T	NCBI36
NG_033008.1:g.154254A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6157A>T MANE Select	ENSP00000447211.2:p.Asn2053Tyr
ENST00000642294.1:c.97A>T	ENSP00000493572.1:p.Asn33Tyr
ENST00000646859.1:c.6022A>T	ENSP00000496036.1:p.Asn2008Tyr
ENST00000298820.7:c.1458A>T
ENST00000458043.6:c.6130A>T	ENSP00000400895.2:p.Asn2044Tyr
ENST00000546620.5:n.413A>T
ENST00000547103.5:c.6094A>T	ENSP00000447211.1:p.Asn2032Tyr
ENST00000550182.2:c.181A>T	ENSP00000449641.1:p.Asn61Tyr
ENST00000551340.5:c.285A>T
NM_173591.3:c.6130A>T	NP_775862.3:p.Asn2044Tyr
XM_005268802.2:c.6181A>T	XP_005268859.1:p.Asn2061Tyr
XM_011538191.1:c.6181A>T	XP_011536493.1:p.Asn2061Tyr
XM_011538192.1:c.6028A>T	XP_011536494.1:p.Asn2010Tyr
XM_011538193.1:c.5815A>T	XP_011536495.1:p.Asn1939Tyr
XM_005268802.3:c.6181A>T	XP_005268859.1:p.Asn2061Tyr
XM_011538192.2:c.6028A>T	XP_011536494.1:p.Asn2010Tyr
NM_001368062.1:c.5995A>T	NP_001354991.1:p.Asn1999Tyr
NM_001368062.3:c.6022A>T	NP_001354991.2:p.Asn2008Tyr
NM_001378609.3:c.6157A>T MANE Select	NP_001365538.2:p.Asn2053Tyr
NM_001378610.3:c.6157A>T	NP_001365539.2:p.Asn2053Tyr
NM_173591.7:c.6157A>T	NP_775862.4:p.Asn2053Tyr