Canonical Allele Identifier: CA385888823

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752525T>G (hg19) ; chr12:g.80358745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358745T>G , CM000674.2:g.80358745T>G	GRCh38
NC_000012.11:g.80752525T>G , CM000674.1:g.80752525T>G	GRCh37
NC_000012.10:g.79276656T>G	NCBI36
NG_033008.1:g.154293T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6196T>G MANE Select	ENSP00000447211.2:p.Ser2066Ala
ENST00000642294.1:c.136T>G	ENSP00000493572.1:p.Ser46Ala
ENST00000646859.1:c.6061T>G	ENSP00000496036.1:p.Ser2021Ala
ENST00000298820.7:c.1497T>G
ENST00000458043.6:c.6169T>G	ENSP00000400895.2:p.Ser2057Ala
ENST00000546620.5:n.452T>G
ENST00000547103.5:c.6133T>G	ENSP00000447211.1:p.Ser2045Ala
ENST00000550182.2:c.220T>G	ENSP00000449641.1:p.Ser74Ala
ENST00000551340.5:c.324T>G
NM_173591.3:c.6169T>G	NP_775862.3:p.Ser2057Ala
XM_005268802.2:c.6220T>G	XP_005268859.1:p.Ser2074Ala
XM_011538191.1:c.6220T>G	XP_011536493.1:p.Ser2074Ala
XM_011538192.1:c.6067T>G	XP_011536494.1:p.Ser2023Ala
XM_011538193.1:c.5854T>G	XP_011536495.1:p.Ser1952Ala
XM_005268802.3:c.6220T>G	XP_005268859.1:p.Ser2074Ala
XM_011538192.2:c.6067T>G	XP_011536494.1:p.Ser2023Ala
NM_001368062.1:c.6034T>G	NP_001354991.1:p.Ser2012Ala
NM_001368062.3:c.6061T>G	NP_001354991.2:p.Ser2021Ala
NM_001378609.3:c.6196T>G MANE Select	NP_001365538.2:p.Ser2066Ala
NM_001378610.3:c.6196T>G	NP_001365539.2:p.Ser2066Ala
NM_173591.7:c.6196T>G	NP_775862.4:p.Ser2066Ala