Canonical Allele Identifier: CA385888615

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752121A>C (hg19) ; chr12:g.80358341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358341A>C , CM000674.2:g.80358341A>C	GRCh38
NC_000012.11:g.80752121A>C , CM000674.1:g.80752121A>C	GRCh37
NC_000012.10:g.79276252A>C	NCBI36
NG_033008.1:g.153889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6113A>C MANE Select	ENSP00000447211.2:p.Tyr2038Ser
ENST00000642294.1:c.53A>C	ENSP00000493572.1:p.Tyr18Ser
ENST00000646859.1:c.5978A>C	ENSP00000496036.1:p.Tyr1993Ser
ENST00000298820.7:c.1414A>C
ENST00000458043.6:c.6086A>C	ENSP00000400895.2:p.Tyr2029Ser
ENST00000546620.5:n.369A>C
ENST00000547103.5:c.6050A>C	ENSP00000447211.1:p.Tyr2017Ser
ENST00000550182.2:c.137A>C	ENSP00000449641.1:p.Tyr46Ser
ENST00000551340.5:c.241A>C
NM_173591.3:c.6086A>C	NP_775862.3:p.Tyr2029Ser
XM_005268802.2:c.6137A>C	XP_005268859.1:p.Tyr2046Ser
XM_011538191.1:c.6137A>C	XP_011536493.1:p.Tyr2046Ser
XM_011538192.1:c.5984A>C	XP_011536494.1:p.Tyr1995Ser
XM_011538193.1:c.5771A>C	XP_011536495.1:p.Tyr1924Ser
XM_005268802.3:c.6137A>C	XP_005268859.1:p.Tyr2046Ser
XM_011538192.2:c.5984A>C	XP_011536494.1:p.Tyr1995Ser
NM_001368062.1:c.5951A>C	NP_001354991.1:p.Tyr1984Ser
NM_001368062.3:c.5978A>C	NP_001354991.2:p.Tyr1993Ser
NM_001378609.3:c.6113A>C MANE Select	NP_001365538.2:p.Tyr2038Ser
NM_001378610.3:c.6113A>C	NP_001365539.2:p.Tyr2038Ser
NM_173591.7:c.6113A>C	NP_775862.4:p.Tyr2038Ser