Canonical Allele Identifier: CA385888649

Gene: OTOGL

Linked Data

• dbSNP Id: rs1178110878
• gnomAD v3: 12-80358671-T-C
• gnomAD v4: 12-80358671-T-C
• MyVariant Identifiers: chr12:g.80752451T>C (hg19) ; chr12:g.80358671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358671T>C , CM000674.2:g.80358671T>C	GRCh38
NC_000012.11:g.80752451T>C , CM000674.1:g.80752451T>C	GRCh37
NC_000012.10:g.79276582T>C	NCBI36
NG_033008.1:g.154219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6122T>C MANE Select	ENSP00000447211.2:p.Val2041Ala
ENST00000642294.1:c.62T>C	ENSP00000493572.1:p.Val21Ala
ENST00000646859.1:c.5987T>C	ENSP00000496036.1:p.Val1996Ala
ENST00000298820.7:c.1423T>C
ENST00000458043.6:c.6095T>C	ENSP00000400895.2:p.Val2032Ala
ENST00000546620.5:n.378T>C
ENST00000547103.5:c.6059T>C	ENSP00000447211.1:p.Val2020Ala
ENST00000550182.2:c.146T>C	ENSP00000449641.1:p.Val49Ala
ENST00000551340.5:c.250T>C
NM_173591.3:c.6095T>C	NP_775862.3:p.Val2032Ala
XM_005268802.2:c.6146T>C	XP_005268859.1:p.Val2049Ala
XM_011538191.1:c.6146T>C	XP_011536493.1:p.Val2049Ala
XM_011538192.1:c.5993T>C	XP_011536494.1:p.Val1998Ala
XM_011538193.1:c.5780T>C	XP_011536495.1:p.Val1927Ala
XM_005268802.3:c.6146T>C	XP_005268859.1:p.Val2049Ala
XM_011538192.2:c.5993T>C	XP_011536494.1:p.Val1998Ala
NM_001368062.1:c.5960T>C	NP_001354991.1:p.Val1987Ala
NM_001368062.3:c.5987T>C	NP_001354991.2:p.Val1996Ala
NM_001378609.3:c.6122T>C MANE Select	NP_001365538.2:p.Val2041Ala
NM_001378610.3:c.6122T>C	NP_001365539.2:p.Val2041Ala
NM_173591.7:c.6122T>C	NP_775862.4:p.Val2041Ala