Canonical Allele Identifier: CA385888607

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358338-A-T
• MyVariant Identifiers: chr12:g.80752118A>T (hg19) ; chr12:g.80358338A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358338A>T , CM000674.2:g.80358338A>T	GRCh38
NC_000012.11:g.80752118A>T , CM000674.1:g.80752118A>T	GRCh37
NC_000012.10:g.79276249A>T	NCBI36
NG_033008.1:g.153886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6110A>T MANE Select	ENSP00000447211.2:p.Gln2037Leu
ENST00000642294.1:c.50A>T	ENSP00000493572.1:p.Gln17Leu
ENST00000646859.1:c.5975A>T	ENSP00000496036.1:p.Gln1992Leu
ENST00000298820.7:c.1411A>T
ENST00000458043.6:c.6083A>T	ENSP00000400895.2:p.Gln2028Leu
ENST00000546620.5:n.366A>T
ENST00000547103.5:c.6047A>T	ENSP00000447211.1:p.Gln2016Leu
ENST00000550182.2:c.134A>T	ENSP00000449641.1:p.Gln45Leu
ENST00000551340.5:c.238A>T
NM_173591.3:c.6083A>T	NP_775862.3:p.Gln2028Leu
XM_005268802.2:c.6134A>T	XP_005268859.1:p.Gln2045Leu
XM_011538191.1:c.6134A>T	XP_011536493.1:p.Gln2045Leu
XM_011538192.1:c.5981A>T	XP_011536494.1:p.Gln1994Leu
XM_011538193.1:c.5768A>T	XP_011536495.1:p.Gln1923Leu
XM_005268802.3:c.6134A>T	XP_005268859.1:p.Gln2045Leu
XM_011538192.2:c.5981A>T	XP_011536494.1:p.Gln1994Leu
NM_001368062.1:c.5948A>T	NP_001354991.1:p.Gln1983Leu
NM_001368062.3:c.5975A>T	NP_001354991.2:p.Gln1992Leu
NM_001378609.3:c.6110A>T MANE Select	NP_001365538.2:p.Gln2037Leu
NM_001378610.3:c.6110A>T	NP_001365539.2:p.Gln2037Leu
NM_173591.7:c.6110A>T	NP_775862.4:p.Gln2037Leu