Canonical Allele Identifier: CA385888865

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358766-T-A
• MyVariant Identifiers: chr12:g.80752546T>A (hg19) ; chr12:g.80358766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358766T>A , CM000674.2:g.80358766T>A	GRCh38
NC_000012.11:g.80752546T>A , CM000674.1:g.80752546T>A	GRCh37
NC_000012.10:g.79276677T>A	NCBI36
NG_033008.1:g.154314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6217T>A MANE Select	ENSP00000447211.2:p.Trp2073Arg
ENST00000642294.1:c.157T>A	ENSP00000493572.1:p.Trp53Arg
ENST00000646859.1:c.6082T>A	ENSP00000496036.1:p.Trp2028Arg
ENST00000298820.7:c.1518T>A
ENST00000458043.6:c.6190T>A	ENSP00000400895.2:p.Trp2064Arg
ENST00000546620.5:n.473T>A
ENST00000547103.5:c.6154T>A	ENSP00000447211.1:p.Trp2052Arg
ENST00000550182.2:c.241T>A	ENSP00000449641.1:p.Trp81Arg
ENST00000551340.5:c.345T>A
NM_173591.3:c.6190T>A	NP_775862.3:p.Trp2064Arg
XM_005268802.2:c.6241T>A	XP_005268859.1:p.Trp2081Arg
XM_011538191.1:c.6241T>A	XP_011536493.1:p.Trp2081Arg
XM_011538192.1:c.6088T>A	XP_011536494.1:p.Trp2030Arg
XM_011538193.1:c.5875T>A	XP_011536495.1:p.Trp1959Arg
XM_005268802.3:c.6241T>A	XP_005268859.1:p.Trp2081Arg
XM_011538192.2:c.6088T>A	XP_011536494.1:p.Trp2030Arg
NM_001368062.1:c.6055T>A	NP_001354991.1:p.Trp2019Arg
NM_001368062.3:c.6082T>A	NP_001354991.2:p.Trp2028Arg
NM_001378609.3:c.6217T>A MANE Select	NP_001365538.2:p.Trp2073Arg
NM_001378610.3:c.6217T>A	NP_001365539.2:p.Trp2073Arg
NM_173591.7:c.6217T>A	NP_775862.4:p.Trp2073Arg