Canonical Allele Identifier: CA385888939

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358876-C-A
• MyVariant Identifiers: chr12:g.80752656C>A (hg19) ; chr12:g.80358876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358876C>A , CM000674.2:g.80358876C>A	GRCh38
NC_000012.11:g.80752656C>A , CM000674.1:g.80752656C>A	GRCh37
NC_000012.10:g.79276787C>A	NCBI36
NG_033008.1:g.154424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6243C>A MANE Select	ENSP00000447211.2:p.Asn2081Lys
ENST00000642294.1:c.183C>A	ENSP00000493572.1:p.Asn61Lys
ENST00000646859.1:c.6108C>A	ENSP00000496036.1:p.Asn2036Lys
ENST00000298820.7:c.1527+101C>A
ENST00000458043.6:c.6216C>A	ENSP00000400895.2:p.Asn2072Lys
ENST00000546620.5:n.499C>A
ENST00000547103.5:c.6180C>A	ENSP00000447211.1:p.Asn2060Lys
ENST00000550182.2:c.267C>A	ENSP00000449641.1:p.Asn89Lys
ENST00000551340.5:c.371C>A
NM_173591.3:c.6216C>A	NP_775862.3:p.Asn2072Lys
XM_005268802.2:c.6267C>A	XP_005268859.1:p.Asn2089Lys
XM_011538191.1:c.6267C>A	XP_011536493.1:p.Asn2089Lys
XM_011538192.1:c.6114C>A	XP_011536494.1:p.Asn2038Lys
XM_011538193.1:c.5901C>A	XP_011536495.1:p.Asn1967Lys
XM_005268802.3:c.6267C>A	XP_005268859.1:p.Asn2089Lys
XM_011538192.2:c.6114C>A	XP_011536494.1:p.Asn2038Lys
NM_001368062.1:c.6081C>A	NP_001354991.1:p.Asn2027Lys
NM_001368062.3:c.6108C>A	NP_001354991.2:p.Asn2036Lys
NM_001378609.3:c.6243C>A MANE Select	NP_001365538.2:p.Asn2081Lys
NM_001378610.3:c.6243C>A	NP_001365539.2:p.Asn2081Lys
NM_173591.7:c.6243C>A	NP_775862.4:p.Asn2081Lys