Canonical Allele Identifier: CA6701931

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 226964
• ClinVar RCV Id: RCV000221504 ; RCV000712493
• dbSNP Id: rs34323912
• ExAC: 12:80752485 C / T
• gnomAD v2: 12-80752485-C-T
• gnomAD v3: 12-80358705-C-T
• gnomAD v4: 12-80358705-C-T
• MyVariant Identifiers: chr12:g.80752485C>T (hg19) ; chr12:g.80358705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358705C>T , CM000674.2:g.80358705C>T	GRCh38
NC_000012.11:g.80752485C>T , CM000674.1:g.80752485C>T	GRCh37
NC_000012.10:g.79276616C>T	NCBI36
NG_033008.1:g.154253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6156C>T MANE Select	ENSP00000447211.2:p.Leu2052=
ENST00000642294.1:c.96C>T	ENSP00000493572.1:p.Leu32=
ENST00000646859.1:c.6021C>T	ENSP00000496036.1:p.Leu2007=
ENST00000298820.7:c.1457C>T
ENST00000458043.6:c.6129C>T	ENSP00000400895.2:p.Leu2043=
ENST00000546620.5:n.412C>T
ENST00000547103.5:c.6093C>T	ENSP00000447211.1:p.Leu2031=
ENST00000550182.2:c.180C>T	ENSP00000449641.1:p.Leu60=
ENST00000551340.5:c.284C>T
NM_173591.3:c.6129C>T	NP_775862.3:p.Leu2043=
XM_005268802.2:c.6180C>T	XP_005268859.1:p.Leu2060=
XM_011538191.1:c.6180C>T	XP_011536493.1:p.Leu2060=
XM_011538192.1:c.6027C>T	XP_011536494.1:p.Leu2009=
XM_011538193.1:c.5814C>T	XP_011536495.1:p.Leu1938=
XM_005268802.3:c.6180C>T	XP_005268859.1:p.Leu2060=
XM_011538192.2:c.6027C>T	XP_011536494.1:p.Leu2009=
NM_001368062.1:c.5994C>T	NP_001354991.1:p.Leu1998=
NM_001368062.3:c.6021C>T	NP_001354991.2:p.Leu2007=
NM_001378609.3:c.6156C>T MANE Select	NP_001365538.2:p.Leu2052=
NM_001378610.3:c.6156C>T	NP_001365539.2:p.Leu2052=
NM_173591.7:c.6156C>T	NP_775862.4:p.Leu2052=