Canonical Allele Identifier: CA6701929

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 2470627
• ClinVar RCV Id: RCV003191312
• dbSNP Id: rs766348996
• ExAC: 12:80752468 T / C
• gnomAD v2: 12-80752468-T-C
• gnomAD v3: 12-80358688-T-C
• gnomAD v4: 12-80358688-T-C
• MyVariant Identifiers: chr12:g.80752468T>C (hg19) ; chr12:g.80358688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358688T>C , CM000674.2:g.80358688T>C	GRCh38
NC_000012.11:g.80752468T>C , CM000674.1:g.80752468T>C	GRCh37
NC_000012.10:g.79276599T>C	NCBI36
NG_033008.1:g.154236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6139T>C MANE Select	ENSP00000447211.2:p.Cys2047Arg
ENST00000642294.1:c.79T>C	ENSP00000493572.1:p.Cys27Arg
ENST00000646859.1:c.6004T>C	ENSP00000496036.1:p.Cys2002Arg
ENST00000298820.7:c.1440T>C
ENST00000458043.6:c.6112T>C	ENSP00000400895.2:p.Cys2038Arg
ENST00000546620.5:n.395T>C
ENST00000547103.5:c.6076T>C	ENSP00000447211.1:p.Cys2026Arg
ENST00000550182.2:c.163T>C	ENSP00000449641.1:p.Cys55Arg
ENST00000551340.5:c.267T>C
NM_173591.3:c.6112T>C	NP_775862.3:p.Cys2038Arg
XM_005268802.2:c.6163T>C	XP_005268859.1:p.Cys2055Arg
XM_011538191.1:c.6163T>C	XP_011536493.1:p.Cys2055Arg
XM_011538192.1:c.6010T>C	XP_011536494.1:p.Cys2004Arg
XM_011538193.1:c.5797T>C	XP_011536495.1:p.Cys1933Arg
XM_005268802.3:c.6163T>C	XP_005268859.1:p.Cys2055Arg
XM_011538192.2:c.6010T>C	XP_011536494.1:p.Cys2004Arg
NM_001368062.1:c.5977T>C	NP_001354991.1:p.Cys1993Arg
NM_001368062.3:c.6004T>C	NP_001354991.2:p.Cys2002Arg
NM_001378609.3:c.6139T>C MANE Select	NP_001365538.2:p.Cys2047Arg
NM_001378610.3:c.6139T>C	NP_001365539.2:p.Cys2047Arg
NM_173591.7:c.6139T>C	NP_775862.4:p.Cys2047Arg