Canonical Allele Identifier: CA385888631

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752127G>C (hg19) ; chr12:g.80358347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358347G>C , CM000674.2:g.80358347G>C	GRCh38
NC_000012.11:g.80752127G>C , CM000674.1:g.80752127G>C	GRCh37
NC_000012.10:g.79276258G>C	NCBI36
NG_033008.1:g.153895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6119G>C MANE Select	ENSP00000447211.2:p.Cys2040Ser
ENST00000642294.1:c.59G>C	ENSP00000493572.1:p.Cys20Ser
ENST00000646859.1:c.5984G>C	ENSP00000496036.1:p.Cys1995Ser
ENST00000298820.7:c.1420G>C
ENST00000458043.6:c.6092G>C	ENSP00000400895.2:p.Cys2031Ser
ENST00000546620.5:n.375G>C
ENST00000547103.5:c.6056G>C	ENSP00000447211.1:p.Cys2019Ser
ENST00000550182.2:c.143G>C	ENSP00000449641.1:p.Cys48Ser
ENST00000551340.5:c.247G>C
NM_173591.3:c.6092G>C	NP_775862.3:p.Cys2031Ser
XM_005268802.2:c.6143G>C	XP_005268859.1:p.Cys2048Ser
XM_011538191.1:c.6143G>C	XP_011536493.1:p.Cys2048Ser
XM_011538192.1:c.5990G>C	XP_011536494.1:p.Cys1997Ser
XM_011538193.1:c.5777G>C	XP_011536495.1:p.Cys1926Ser
XM_005268802.3:c.6143G>C	XP_005268859.1:p.Cys2048Ser
XM_011538192.2:c.5990G>C	XP_011536494.1:p.Cys1997Ser
NM_001368062.1:c.5957G>C	NP_001354991.1:p.Cys1986Ser
NM_001368062.3:c.5984G>C	NP_001354991.2:p.Cys1995Ser
NM_001378609.3:c.6119G>C MANE Select	NP_001365538.2:p.Cys2040Ser
NM_001378610.3:c.6119G>C	NP_001365539.2:p.Cys2040Ser
NM_173591.7:c.6119G>C	NP_775862.4:p.Cys2040Ser