Canonical Allele Identifier: CA480823001

Gene: OTOGL

Linked Data

• dbSNP Id: rs1209826716
• gnomAD v2: 12-80752452-A-G
• gnomAD v4: 12-80358672-A-G
• MyVariant Identifiers: chr12:g.80752452A>G (hg19) ; chr12:g.80358672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358672A>G , CM000674.2:g.80358672A>G	GRCh38
NC_000012.11:g.80752452A>G , CM000674.1:g.80752452A>G	GRCh37
NC_000012.10:g.79276583A>G	NCBI36
NG_033008.1:g.154220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6123A>G MANE Select	ENSP00000447211.2:p.Val2041=
ENST00000642294.1:c.63A>G	ENSP00000493572.1:p.Val21=
ENST00000646859.1:c.5988A>G	ENSP00000496036.1:p.Val1996=
ENST00000298820.7:c.1424A>G
ENST00000458043.6:c.6096A>G	ENSP00000400895.2:p.Val2032=
ENST00000546620.5:n.379A>G
ENST00000547103.5:c.6060A>G	ENSP00000447211.1:p.Val2020=
ENST00000550182.2:c.147A>G	ENSP00000449641.1:p.Val49=
ENST00000551340.5:c.251A>G
NM_173591.3:c.6096A>G	NP_775862.3:p.Val2032=
XM_005268802.2:c.6147A>G	XP_005268859.1:p.Val2049=
XM_011538191.1:c.6147A>G	XP_011536493.1:p.Val2049=
XM_011538192.1:c.5994A>G	XP_011536494.1:p.Val1998=
XM_011538193.1:c.5781A>G	XP_011536495.1:p.Val1927=
XM_005268802.3:c.6147A>G	XP_005268859.1:p.Val2049=
XM_011538192.2:c.5994A>G	XP_011536494.1:p.Val1998=
NM_001368062.1:c.5961A>G	NP_001354991.1:p.Val1987=
NM_001368062.3:c.5988A>G	NP_001354991.2:p.Val1996=
NM_001378609.3:c.6123A>G MANE Select	NP_001365538.2:p.Val2041=
NM_001378610.3:c.6123A>G	NP_001365539.2:p.Val2041=
NM_173591.7:c.6123A>G	NP_775862.4:p.Val2041=