Canonical Allele Identifier: CA385888627

Gene: OTOGL

Linked Data

• dbSNP Id: rs1274274163
• gnomAD v2: 12-80752126-T-A
• gnomAD v3: 12-80358346-T-A
• gnomAD v4: 12-80358346-T-A
• MyVariant Identifiers: chr12:g.80752126T>A (hg19) ; chr12:g.80358346T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358346T>A , CM000674.2:g.80358346T>A	GRCh38
NC_000012.11:g.80752126T>A , CM000674.1:g.80752126T>A	GRCh37
NC_000012.10:g.79276257T>A	NCBI36
NG_033008.1:g.153894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6118T>A MANE Select	ENSP00000447211.2:p.Cys2040Ser
ENST00000642294.1:c.58T>A	ENSP00000493572.1:p.Cys20Ser
ENST00000646859.1:c.5983T>A	ENSP00000496036.1:p.Cys1995Ser
ENST00000298820.7:c.1419T>A
ENST00000458043.6:c.6091T>A	ENSP00000400895.2:p.Cys2031Ser
ENST00000546620.5:n.374T>A
ENST00000547103.5:c.6055T>A	ENSP00000447211.1:p.Cys2019Ser
ENST00000550182.2:c.142T>A	ENSP00000449641.1:p.Cys48Ser
ENST00000551340.5:c.246T>A
NM_173591.3:c.6091T>A	NP_775862.3:p.Cys2031Ser
XM_005268802.2:c.6142T>A	XP_005268859.1:p.Cys2048Ser
XM_011538191.1:c.6142T>A	XP_011536493.1:p.Cys2048Ser
XM_011538192.1:c.5989T>A	XP_011536494.1:p.Cys1997Ser
XM_011538193.1:c.5776T>A	XP_011536495.1:p.Cys1926Ser
XM_005268802.3:c.6142T>A	XP_005268859.1:p.Cys2048Ser
XM_011538192.2:c.5989T>A	XP_011536494.1:p.Cys1997Ser
NM_001368062.1:c.5956T>A	NP_001354991.1:p.Cys1986Ser
NM_001368062.3:c.5983T>A	NP_001354991.2:p.Cys1995Ser
NM_001378609.3:c.6118T>A MANE Select	NP_001365538.2:p.Cys2040Ser
NM_001378610.3:c.6118T>A	NP_001365539.2:p.Cys2040Ser
NM_173591.7:c.6118T>A	NP_775862.4:p.Cys2040Ser