Canonical Allele Identifier: CA480822183

Gene: OTOGL

Linked Data

• dbSNP Id: rs1477712956
• gnomAD v3: 12-80358339-G-A
• gnomAD v4: 12-80358339-G-A
• MyVariant Identifiers: chr12:g.80752119G>A (hg19) ; chr12:g.80358339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358339G>A , CM000674.2:g.80358339G>A	GRCh38
NC_000012.11:g.80752119G>A , CM000674.1:g.80752119G>A	GRCh37
NC_000012.10:g.79276250G>A	NCBI36
NG_033008.1:g.153887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6111G>A MANE Select	ENSP00000447211.2:p.Gln2037=
ENST00000642294.1:c.51G>A	ENSP00000493572.1:p.Gln17=
ENST00000646859.1:c.5976G>A	ENSP00000496036.1:p.Gln1992=
ENST00000298820.7:c.1412G>A
ENST00000458043.6:c.6084G>A	ENSP00000400895.2:p.Gln2028=
ENST00000546620.5:n.367G>A
ENST00000547103.5:c.6048G>A	ENSP00000447211.1:p.Gln2016=
ENST00000550182.2:c.135G>A	ENSP00000449641.1:p.Gln45=
ENST00000551340.5:c.239G>A
NM_173591.3:c.6084G>A	NP_775862.3:p.Gln2028=
XM_005268802.2:c.6135G>A	XP_005268859.1:p.Gln2045=
XM_011538191.1:c.6135G>A	XP_011536493.1:p.Gln2045=
XM_011538192.1:c.5982G>A	XP_011536494.1:p.Gln1994=
XM_011538193.1:c.5769G>A	XP_011536495.1:p.Gln1923=
XM_005268802.3:c.6135G>A	XP_005268859.1:p.Gln2045=
XM_011538192.2:c.5982G>A	XP_011536494.1:p.Gln1994=
NM_001368062.1:c.5949G>A	NP_001354991.1:p.Gln1983=
NM_001368062.3:c.5976G>A	NP_001354991.2:p.Gln1992=
NM_001378609.3:c.6111G>A MANE Select	NP_001365538.2:p.Gln2037=
NM_001378610.3:c.6111G>A	NP_001365539.2:p.Gln2037=
NM_173591.7:c.6111G>A	NP_775862.4:p.Gln2037=