Canonical Allele Identifier: CA385888888

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752555G>C (hg19) ; chr12:g.80358775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358775G>C , CM000674.2:g.80358775G>C	GRCh38
NC_000012.11:g.80752555G>C , CM000674.1:g.80752555G>C	GRCh37
NC_000012.10:g.79276686G>C	NCBI36
NG_033008.1:g.154323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6226G>C MANE Select	ENSP00000447211.2:p.Glu2076Gln
ENST00000642294.1:c.166G>C	ENSP00000493572.1:p.Glu56Gln
ENST00000646859.1:c.6091G>C	ENSP00000496036.1:p.Glu2031Gln
ENST00000298820.7:c.1527G>C
ENST00000458043.6:c.6199G>C	ENSP00000400895.2:p.Glu2067Gln
ENST00000546620.5:n.482G>C
ENST00000547103.5:c.6163G>C	ENSP00000447211.1:p.Glu2055Gln
ENST00000550182.2:c.250G>C	ENSP00000449641.1:p.Glu84Gln
ENST00000551340.5:c.354G>C
NM_173591.3:c.6199G>C	NP_775862.3:p.Glu2067Gln
XM_005268802.2:c.6250G>C	XP_005268859.1:p.Glu2084Gln
XM_011538191.1:c.6250G>C	XP_011536493.1:p.Glu2084Gln
XM_011538192.1:c.6097G>C	XP_011536494.1:p.Glu2033Gln
XM_011538193.1:c.5884G>C	XP_011536495.1:p.Glu1962Gln
XM_005268802.3:c.6250G>C	XP_005268859.1:p.Glu2084Gln
XM_011538192.2:c.6097G>C	XP_011536494.1:p.Glu2033Gln
NM_001368062.1:c.6064G>C	NP_001354991.1:p.Glu2022Gln
NM_001368062.3:c.6091G>C	NP_001354991.2:p.Glu2031Gln
NM_001378609.3:c.6226G>C MANE Select	NP_001365538.2:p.Glu2076Gln
NM_001378610.3:c.6226G>C	NP_001365539.2:p.Glu2076Gln
NM_173591.7:c.6226G>C	NP_775862.4:p.Glu2076Gln