Canonical Allele Identifier: CA385888906

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752642T>A (hg19) ; chr12:g.80358862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358862T>A , CM000674.2:g.80358862T>A	GRCh38
NC_000012.11:g.80752642T>A , CM000674.1:g.80752642T>A	GRCh37
NC_000012.10:g.79276773T>A	NCBI36
NG_033008.1:g.154410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6229T>A MANE Select	ENSP00000447211.2:p.Cys2077Ser
ENST00000642294.1:c.169T>A	ENSP00000493572.1:p.Cys57Ser
ENST00000646859.1:c.6094T>A	ENSP00000496036.1:p.Cys2032Ser
ENST00000298820.7:c.1527+87T>A
ENST00000458043.6:c.6202T>A	ENSP00000400895.2:p.Cys2068Ser
ENST00000546620.5:n.485T>A
ENST00000547103.5:c.6166T>A	ENSP00000447211.1:p.Cys2056Ser
ENST00000550182.2:c.253T>A	ENSP00000449641.1:p.Cys85Ser
ENST00000551340.5:c.357T>A
NM_173591.3:c.6202T>A	NP_775862.3:p.Cys2068Ser
XM_005268802.2:c.6253T>A	XP_005268859.1:p.Cys2085Ser
XM_011538191.1:c.6253T>A	XP_011536493.1:p.Cys2085Ser
XM_011538192.1:c.6100T>A	XP_011536494.1:p.Cys2034Ser
XM_011538193.1:c.5887T>A	XP_011536495.1:p.Cys1963Ser
XM_005268802.3:c.6253T>A	XP_005268859.1:p.Cys2085Ser
XM_011538192.2:c.6100T>A	XP_011536494.1:p.Cys2034Ser
NM_001368062.1:c.6067T>A	NP_001354991.1:p.Cys2023Ser
NM_001368062.3:c.6094T>A	NP_001354991.2:p.Cys2032Ser
NM_001378609.3:c.6229T>A MANE Select	NP_001365538.2:p.Cys2077Ser
NM_001378610.3:c.6229T>A	NP_001365539.2:p.Cys2077Ser
NM_173591.7:c.6229T>A	NP_775862.4:p.Cys2077Ser