Canonical Allele Identifier: CA385888848

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358757-T-C
• MyVariant Identifiers: chr12:g.80752537T>C (hg19) ; chr12:g.80358757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358757T>C , CM000674.2:g.80358757T>C	GRCh38
NC_000012.11:g.80752537T>C , CM000674.1:g.80752537T>C	GRCh37
NC_000012.10:g.79276668T>C	NCBI36
NG_033008.1:g.154305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6208T>C MANE Select	ENSP00000447211.2:p.Cys2070Arg
ENST00000642294.1:c.148T>C	ENSP00000493572.1:p.Cys50Arg
ENST00000646859.1:c.6073T>C	ENSP00000496036.1:p.Cys2025Arg
ENST00000298820.7:c.1509T>C
ENST00000458043.6:c.6181T>C	ENSP00000400895.2:p.Cys2061Arg
ENST00000546620.5:n.464T>C
ENST00000547103.5:c.6145T>C	ENSP00000447211.1:p.Cys2049Arg
ENST00000550182.2:c.232T>C	ENSP00000449641.1:p.Cys78Arg
ENST00000551340.5:c.336T>C
NM_173591.3:c.6181T>C	NP_775862.3:p.Cys2061Arg
XM_005268802.2:c.6232T>C	XP_005268859.1:p.Cys2078Arg
XM_011538191.1:c.6232T>C	XP_011536493.1:p.Cys2078Arg
XM_011538192.1:c.6079T>C	XP_011536494.1:p.Cys2027Arg
XM_011538193.1:c.5866T>C	XP_011536495.1:p.Cys1956Arg
XM_005268802.3:c.6232T>C	XP_005268859.1:p.Cys2078Arg
XM_011538192.2:c.6079T>C	XP_011536494.1:p.Cys2027Arg
NM_001368062.1:c.6046T>C	NP_001354991.1:p.Cys2016Arg
NM_001368062.3:c.6073T>C	NP_001354991.2:p.Cys2025Arg
NM_001378609.3:c.6208T>C MANE Select	NP_001365538.2:p.Cys2070Arg
NM_001378610.3:c.6208T>C	NP_001365539.2:p.Cys2070Arg
NM_173591.7:c.6208T>C	NP_775862.4:p.Cys2070Arg