Canonical Allele Identifier: CA385888819

Gene: OTOGL

Linked Data

• COSMIC: COSM943780 ; COSM943781
• MyVariant Identifiers: chr12:g.80752523T>C (hg19) ; chr12:g.80358743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358743T>C , CM000674.2:g.80358743T>C	GRCh38
NC_000012.11:g.80752523T>C , CM000674.1:g.80752523T>C	GRCh37
NC_000012.10:g.79276654T>C	NCBI36
NG_033008.1:g.154291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6194T>C MANE Select	ENSP00000447211.2:p.Val2065Ala
ENST00000642294.1:c.134T>C	ENSP00000493572.1:p.Val45Ala
ENST00000646859.1:c.6059T>C	ENSP00000496036.1:p.Val2020Ala
ENST00000298820.7:c.1495T>C
ENST00000458043.6:c.6167T>C	ENSP00000400895.2:p.Val2056Ala
ENST00000546620.5:n.450T>C
ENST00000547103.5:c.6131T>C	ENSP00000447211.1:p.Val2044Ala
ENST00000550182.2:c.218T>C	ENSP00000449641.1:p.Val73Ala
ENST00000551340.5:c.322T>C
NM_173591.3:c.6167T>C	NP_775862.3:p.Val2056Ala
XM_005268802.2:c.6218T>C	XP_005268859.1:p.Val2073Ala
XM_011538191.1:c.6218T>C	XP_011536493.1:p.Val2073Ala
XM_011538192.1:c.6065T>C	XP_011536494.1:p.Val2022Ala
XM_011538193.1:c.5852T>C	XP_011536495.1:p.Val1951Ala
XM_005268802.3:c.6218T>C	XP_005268859.1:p.Val2073Ala
XM_011538192.2:c.6065T>C	XP_011536494.1:p.Val2022Ala
NM_001368062.1:c.6032T>C	NP_001354991.1:p.Val2011Ala
NM_001368062.3:c.6059T>C	NP_001354991.2:p.Val2020Ala
NM_001378609.3:c.6194T>C MANE Select	NP_001365538.2:p.Val2065Ala
NM_001378610.3:c.6194T>C	NP_001365539.2:p.Val2065Ala
NM_173591.7:c.6194T>C	NP_775862.4:p.Val2065Ala