Canonical Allele Identifier: CA385888789

Gene: OTOGL

Linked Data

• dbSNP Id: rs1443518921
• gnomAD v3: 12-80358731-T-C
• gnomAD v4: 12-80358731-T-C
• MyVariant Identifiers: chr12:g.80752511T>C (hg19) ; chr12:g.80358731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358731T>C , CM000674.2:g.80358731T>C	GRCh38
NC_000012.11:g.80752511T>C , CM000674.1:g.80752511T>C	GRCh37
NC_000012.10:g.79276642T>C	NCBI36
NG_033008.1:g.154279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6182T>C MANE Select	ENSP00000447211.2:p.Val2061Ala
ENST00000642294.1:c.122T>C	ENSP00000493572.1:p.Val41Ala
ENST00000646859.1:c.6047T>C	ENSP00000496036.1:p.Val2016Ala
ENST00000298820.7:c.1483T>C
ENST00000458043.6:c.6155T>C	ENSP00000400895.2:p.Val2052Ala
ENST00000546620.5:n.438T>C
ENST00000547103.5:c.6119T>C	ENSP00000447211.1:p.Val2040Ala
ENST00000550182.2:c.206T>C	ENSP00000449641.1:p.Val69Ala
ENST00000551340.5:c.310T>C
NM_173591.3:c.6155T>C	NP_775862.3:p.Val2052Ala
XM_005268802.2:c.6206T>C	XP_005268859.1:p.Val2069Ala
XM_011538191.1:c.6206T>C	XP_011536493.1:p.Val2069Ala
XM_011538192.1:c.6053T>C	XP_011536494.1:p.Val2018Ala
XM_011538193.1:c.5840T>C	XP_011536495.1:p.Val1947Ala
XM_005268802.3:c.6206T>C	XP_005268859.1:p.Val2069Ala
XM_011538192.2:c.6053T>C	XP_011536494.1:p.Val2018Ala
NM_001368062.1:c.6020T>C	NP_001354991.1:p.Val2007Ala
NM_001368062.3:c.6047T>C	NP_001354991.2:p.Val2016Ala
NM_001378609.3:c.6182T>C MANE Select	NP_001365538.2:p.Val2061Ala
NM_001378610.3:c.6182T>C	NP_001365539.2:p.Val2061Ala
NM_173591.7:c.6182T>C	NP_775862.4:p.Val2061Ala