Canonical Allele Identifier: CA385888651

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752453T>C (hg19) ; chr12:g.80358673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358673T>C , CM000674.2:g.80358673T>C	GRCh38
NC_000012.11:g.80752453T>C , CM000674.1:g.80752453T>C	GRCh37
NC_000012.10:g.79276584T>C	NCBI36
NG_033008.1:g.154221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6124T>C MANE Select	ENSP00000447211.2:p.Cys2042Arg
ENST00000642294.1:c.64T>C	ENSP00000493572.1:p.Cys22Arg
ENST00000646859.1:c.5989T>C	ENSP00000496036.1:p.Cys1997Arg
ENST00000298820.7:c.1425T>C
ENST00000458043.6:c.6097T>C	ENSP00000400895.2:p.Cys2033Arg
ENST00000546620.5:n.380T>C
ENST00000547103.5:c.6061T>C	ENSP00000447211.1:p.Cys2021Arg
ENST00000550182.2:c.148T>C	ENSP00000449641.1:p.Cys50Arg
ENST00000551340.5:c.252T>C
NM_173591.3:c.6097T>C	NP_775862.3:p.Cys2033Arg
XM_005268802.2:c.6148T>C	XP_005268859.1:p.Cys2050Arg
XM_011538191.1:c.6148T>C	XP_011536493.1:p.Cys2050Arg
XM_011538192.1:c.5995T>C	XP_011536494.1:p.Cys1999Arg
XM_011538193.1:c.5782T>C	XP_011536495.1:p.Cys1928Arg
XM_005268802.3:c.6148T>C	XP_005268859.1:p.Cys2050Arg
XM_011538192.2:c.5995T>C	XP_011536494.1:p.Cys1999Arg
NM_001368062.1:c.5962T>C	NP_001354991.1:p.Cys1988Arg
NM_001368062.3:c.5989T>C	NP_001354991.2:p.Cys1997Arg
NM_001378609.3:c.6124T>C MANE Select	NP_001365538.2:p.Cys2042Arg
NM_001378610.3:c.6124T>C	NP_001365539.2:p.Cys2042Arg
NM_173591.7:c.6124T>C	NP_775862.4:p.Cys2042Arg