Canonical Allele Identifier: CA6701936

Gene: OTOGL

Linked Data

• dbSNP Id: rs777526981
• ExAC: 12:80752526 C / G
• gnomAD v2: 12-80752526-C-G
• gnomAD v4: 12-80358746-C-G
• COSMIC: COSM5429317 ; COSM5429318
• MyVariant Identifiers: chr12:g.80752526C>G (hg19) ; chr12:g.80358746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358746C>G , CM000674.2:g.80358746C>G	GRCh38
NC_000012.11:g.80752526C>G , CM000674.1:g.80752526C>G	GRCh37
NC_000012.10:g.79276657C>G	NCBI36
NG_033008.1:g.154294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6197C>G MANE Select	ENSP00000447211.2:p.Ser2066Cys
ENST00000642294.1:c.137C>G	ENSP00000493572.1:p.Ser46Cys
ENST00000646859.1:c.6062C>G	ENSP00000496036.1:p.Ser2021Cys
ENST00000298820.7:c.1498C>G
ENST00000458043.6:c.6170C>G	ENSP00000400895.2:p.Ser2057Cys
ENST00000546620.5:n.453C>G
ENST00000547103.5:c.6134C>G	ENSP00000447211.1:p.Ser2045Cys
ENST00000550182.2:c.221C>G	ENSP00000449641.1:p.Ser74Cys
ENST00000551340.5:c.325C>G
NM_173591.3:c.6170C>G	NP_775862.3:p.Ser2057Cys
XM_005268802.2:c.6221C>G	XP_005268859.1:p.Ser2074Cys
XM_011538191.1:c.6221C>G	XP_011536493.1:p.Ser2074Cys
XM_011538192.1:c.6068C>G	XP_011536494.1:p.Ser2023Cys
XM_011538193.1:c.5855C>G	XP_011536495.1:p.Ser1952Cys
XM_005268802.3:c.6221C>G	XP_005268859.1:p.Ser2074Cys
XM_011538192.2:c.6068C>G	XP_011536494.1:p.Ser2023Cys
NM_001368062.1:c.6035C>G	NP_001354991.1:p.Ser2012Cys
NM_001368062.3:c.6062C>G	NP_001354991.2:p.Ser2021Cys
NM_001378609.3:c.6197C>G MANE Select	NP_001365538.2:p.Ser2066Cys
NM_001378610.3:c.6197C>G	NP_001365539.2:p.Ser2066Cys
NM_173591.7:c.6197C>G	NP_775862.4:p.Ser2066Cys