Canonical Allele Identifier: CA6701952

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 227825
• ClinVar RCV Id: RCV000219649 ; RCV000514672 ; RCV003165530
• dbSNP Id: rs145929269
• ExAC: 12:80752642 T / G
• gnomAD v2: 12-80752642-T-G
• gnomAD v3: 12-80358862-T-G
• gnomAD v4: 12-80358862-T-G
• MyVariant Identifiers: chr12:g.80752642T>G (hg19) ; chr12:g.80358862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358862T>G , CM000674.2:g.80358862T>G	GRCh38
NC_000012.11:g.80752642T>G , CM000674.1:g.80752642T>G	GRCh37
NC_000012.10:g.79276773T>G	NCBI36
NG_033008.1:g.154410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6229T>G MANE Select	ENSP00000447211.2:p.Cys2077Gly
ENST00000642294.1:c.169T>G	ENSP00000493572.1:p.Cys57Gly
ENST00000646859.1:c.6094T>G	ENSP00000496036.1:p.Cys2032Gly
ENST00000298820.7:c.1527+87T>G
ENST00000458043.6:c.6202T>G	ENSP00000400895.2:p.Cys2068Gly
ENST00000546620.5:n.485T>G
ENST00000547103.5:c.6166T>G	ENSP00000447211.1:p.Cys2056Gly
ENST00000550182.2:c.253T>G	ENSP00000449641.1:p.Cys85Gly
ENST00000551340.5:c.357T>G
NM_173591.3:c.6202T>G	NP_775862.3:p.Cys2068Gly
XM_005268802.2:c.6253T>G	XP_005268859.1:p.Cys2085Gly
XM_011538191.1:c.6253T>G	XP_011536493.1:p.Cys2085Gly
XM_011538192.1:c.6100T>G	XP_011536494.1:p.Cys2034Gly
XM_011538193.1:c.5887T>G	XP_011536495.1:p.Cys1963Gly
XM_005268802.3:c.6253T>G	XP_005268859.1:p.Cys2085Gly
XM_011538192.2:c.6100T>G	XP_011536494.1:p.Cys2034Gly
NM_001368062.1:c.6067T>G	NP_001354991.1:p.Cys2023Gly
NM_001368062.3:c.6094T>G	NP_001354991.2:p.Cys2032Gly
NM_001378609.3:c.6229T>G MANE Select	NP_001365538.2:p.Cys2077Gly
NM_001378610.3:c.6229T>G	NP_001365539.2:p.Cys2077Gly
NM_173591.7:c.6229T>G	NP_775862.4:p.Cys2077Gly