Canonical Allele Identifier: CA385888756

Gene: OTOGL

Linked Data

• COSMIC: COSM943778 ; COSM943779
• MyVariant Identifiers: chr12:g.80752498G>A (hg19) ; chr12:g.80358718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358718G>A , CM000674.2:g.80358718G>A	GRCh38
NC_000012.11:g.80752498G>A , CM000674.1:g.80752498G>A	GRCh37
NC_000012.10:g.79276629G>A	NCBI36
NG_033008.1:g.154266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6169G>A MANE Select	ENSP00000447211.2:p.Asp2057Asn
ENST00000642294.1:c.109G>A	ENSP00000493572.1:p.Asp37Asn
ENST00000646859.1:c.6034G>A	ENSP00000496036.1:p.Asp2012Asn
ENST00000298820.7:c.1470G>A
ENST00000458043.6:c.6142G>A	ENSP00000400895.2:p.Asp2048Asn
ENST00000546620.5:n.425G>A
ENST00000547103.5:c.6106G>A	ENSP00000447211.1:p.Asp2036Asn
ENST00000550182.2:c.193G>A	ENSP00000449641.1:p.Asp65Asn
ENST00000551340.5:c.297G>A
NM_173591.3:c.6142G>A	NP_775862.3:p.Asp2048Asn
XM_005268802.2:c.6193G>A	XP_005268859.1:p.Asp2065Asn
XM_011538191.1:c.6193G>A	XP_011536493.1:p.Asp2065Asn
XM_011538192.1:c.6040G>A	XP_011536494.1:p.Asp2014Asn
XM_011538193.1:c.5827G>A	XP_011536495.1:p.Asp1943Asn
XM_005268802.3:c.6193G>A	XP_005268859.1:p.Asp2065Asn
XM_011538192.2:c.6040G>A	XP_011536494.1:p.Asp2014Asn
NM_001368062.1:c.6007G>A	NP_001354991.1:p.Asp2003Asn
NM_001368062.3:c.6034G>A	NP_001354991.2:p.Asp2012Asn
NM_001378609.3:c.6169G>A MANE Select	NP_001365538.2:p.Asp2057Asn
NM_001378610.3:c.6169G>A	NP_001365539.2:p.Asp2057Asn
NM_173591.7:c.6169G>A	NP_775862.4:p.Asp2057Asn