Canonical Allele Identifier: CA385888760

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358719-A-G
• MyVariant Identifiers: chr12:g.80752499A>G (hg19) ; chr12:g.80358719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358719A>G , CM000674.2:g.80358719A>G	GRCh38
NC_000012.11:g.80752499A>G , CM000674.1:g.80752499A>G	GRCh37
NC_000012.10:g.79276630A>G	NCBI36
NG_033008.1:g.154267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6170A>G MANE Select	ENSP00000447211.2:p.Asp2057Gly
ENST00000642294.1:c.110A>G	ENSP00000493572.1:p.Asp37Gly
ENST00000646859.1:c.6035A>G	ENSP00000496036.1:p.Asp2012Gly
ENST00000298820.7:c.1471A>G
ENST00000458043.6:c.6143A>G	ENSP00000400895.2:p.Asp2048Gly
ENST00000546620.5:n.426A>G
ENST00000547103.5:c.6107A>G	ENSP00000447211.1:p.Asp2036Gly
ENST00000550182.2:c.194A>G	ENSP00000449641.1:p.Asp65Gly
ENST00000551340.5:c.298A>G
NM_173591.3:c.6143A>G	NP_775862.3:p.Asp2048Gly
XM_005268802.2:c.6194A>G	XP_005268859.1:p.Asp2065Gly
XM_011538191.1:c.6194A>G	XP_011536493.1:p.Asp2065Gly
XM_011538192.1:c.6041A>G	XP_011536494.1:p.Asp2014Gly
XM_011538193.1:c.5828A>G	XP_011536495.1:p.Asp1943Gly
XM_005268802.3:c.6194A>G	XP_005268859.1:p.Asp2065Gly
XM_011538192.2:c.6041A>G	XP_011536494.1:p.Asp2014Gly
NM_001368062.1:c.6008A>G	NP_001354991.1:p.Asp2003Gly
NM_001368062.3:c.6035A>G	NP_001354991.2:p.Asp2012Gly
NM_001378609.3:c.6170A>G MANE Select	NP_001365538.2:p.Asp2057Gly
NM_001378610.3:c.6170A>G	NP_001365539.2:p.Asp2057Gly
NM_173591.7:c.6170A>G	NP_775862.4:p.Asp2057Gly