Canonical Allele Identifier: CA6701958

Gene: OTOGL

Linked Data

• dbSNP Id: rs758948785
• ExAC: 12:80752665 G / A
• gnomAD v2: 12-80752665-G-A
• gnomAD v4: 12-80358885-G-A
• MyVariant Identifiers: chr12:g.80752665G>A (hg19) ; chr12:g.80358885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358885G>A , CM000674.2:g.80358885G>A	GRCh38
NC_000012.11:g.80752665G>A , CM000674.1:g.80752665G>A	GRCh37
NC_000012.10:g.79276796G>A	NCBI36
NG_033008.1:g.154433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6252G>A MANE Select	ENSP00000447211.2:p.Met2084Ile
ENST00000642294.1:c.192G>A	ENSP00000493572.1:p.Met64Ile
ENST00000646859.1:c.6117G>A	ENSP00000496036.1:p.Met2039Ile
ENST00000298820.7:c.1527+110G>A
ENST00000458043.6:c.6225G>A	ENSP00000400895.2:p.Met2075Ile
ENST00000546620.5:n.508G>A
ENST00000547103.5:c.6189G>A	ENSP00000447211.1:p.Met2063Ile
ENST00000550182.2:c.276G>A	ENSP00000449641.1:p.Met92Ile
ENST00000551340.5:c.380G>A
NM_173591.3:c.6225G>A	NP_775862.3:p.Met2075Ile
XM_005268802.2:c.6276G>A	XP_005268859.1:p.Met2092Ile
XM_011538191.1:c.6276G>A	XP_011536493.1:p.Met2092Ile
XM_011538192.1:c.6123G>A	XP_011536494.1:p.Met2041Ile
XM_011538193.1:c.5910G>A	XP_011536495.1:p.Met1970Ile
XM_005268802.3:c.6276G>A	XP_005268859.1:p.Met2092Ile
XM_011538192.2:c.6123G>A	XP_011536494.1:p.Met2041Ile
NM_001368062.1:c.6090G>A	NP_001354991.1:p.Met2030Ile
NM_001368062.3:c.6117G>A	NP_001354991.2:p.Met2039Ile
NM_001378609.3:c.6252G>A MANE Select	NP_001365538.2:p.Met2084Ile
NM_001378610.3:c.6252G>A	NP_001365539.2:p.Met2084Ile
NM_173591.7:c.6252G>A	NP_775862.4:p.Met2084Ile