Canonical Allele Identifier: CA385888920

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 2434528
• ClinVar RCV Id: RCV003134716
• gnomAD v4: 12-80358868-T-C
• MyVariant Identifiers: chr12:g.80752648T>C (hg19) ; chr12:g.80358868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358868T>C , CM000674.2:g.80358868T>C	GRCh38
NC_000012.11:g.80752648T>C , CM000674.1:g.80752648T>C	GRCh37
NC_000012.10:g.79276779T>C	NCBI36
NG_033008.1:g.154416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6235T>C MANE Select	ENSP00000447211.2:p.Cys2079Arg
ENST00000642294.1:c.175T>C	ENSP00000493572.1:p.Cys59Arg
ENST00000646859.1:c.6100T>C	ENSP00000496036.1:p.Cys2034Arg
ENST00000298820.7:c.1527+93T>C
ENST00000458043.6:c.6208T>C	ENSP00000400895.2:p.Cys2070Arg
ENST00000546620.5:n.491T>C
ENST00000547103.5:c.6172T>C	ENSP00000447211.1:p.Cys2058Arg
ENST00000550182.2:c.259T>C	ENSP00000449641.1:p.Cys87Arg
ENST00000551340.5:c.363T>C
NM_173591.3:c.6208T>C	NP_775862.3:p.Cys2070Arg
XM_005268802.2:c.6259T>C	XP_005268859.1:p.Cys2087Arg
XM_011538191.1:c.6259T>C	XP_011536493.1:p.Cys2087Arg
XM_011538192.1:c.6106T>C	XP_011536494.1:p.Cys2036Arg
XM_011538193.1:c.5893T>C	XP_011536495.1:p.Cys1965Arg
XM_005268802.3:c.6259T>C	XP_005268859.1:p.Cys2087Arg
XM_011538192.2:c.6106T>C	XP_011536494.1:p.Cys2036Arg
NM_001368062.1:c.6073T>C	NP_001354991.1:p.Cys2025Arg
NM_001368062.3:c.6100T>C	NP_001354991.2:p.Cys2034Arg
NM_001378609.3:c.6235T>C MANE Select	NP_001365538.2:p.Cys2079Arg
NM_001378610.3:c.6235T>C	NP_001365539.2:p.Cys2079Arg
NM_173591.7:c.6235T>C	NP_775862.4:p.Cys2079Arg