Canonical Allele Identifier: CA385888813

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358741-T-A
• MyVariant Identifiers: chr12:g.80752521T>A (hg19) ; chr12:g.80358741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358741T>A , CM000674.2:g.80358741T>A	GRCh38
NC_000012.11:g.80752521T>A , CM000674.1:g.80752521T>A	GRCh37
NC_000012.10:g.79276652T>A	NCBI36
NG_033008.1:g.154289T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6192T>A MANE Select	ENSP00000447211.2:p.Asn2064Lys
ENST00000642294.1:c.132T>A	ENSP00000493572.1:p.Asn44Lys
ENST00000646859.1:c.6057T>A	ENSP00000496036.1:p.Asn2019Lys
ENST00000298820.7:c.1493T>A
ENST00000458043.6:c.6165T>A	ENSP00000400895.2:p.Asn2055Lys
ENST00000546620.5:n.448T>A
ENST00000547103.5:c.6129T>A	ENSP00000447211.1:p.Asn2043Lys
ENST00000550182.2:c.216T>A	ENSP00000449641.1:p.Asn72Lys
ENST00000551340.5:c.320T>A
NM_173591.3:c.6165T>A	NP_775862.3:p.Asn2055Lys
XM_005268802.2:c.6216T>A	XP_005268859.1:p.Asn2072Lys
XM_011538191.1:c.6216T>A	XP_011536493.1:p.Asn2072Lys
XM_011538192.1:c.6063T>A	XP_011536494.1:p.Asn2021Lys
XM_011538193.1:c.5850T>A	XP_011536495.1:p.Asn1950Lys
XM_005268802.3:c.6216T>A	XP_005268859.1:p.Asn2072Lys
XM_011538192.2:c.6063T>A	XP_011536494.1:p.Asn2021Lys
NM_001368062.1:c.6030T>A	NP_001354991.1:p.Asn2010Lys
NM_001368062.3:c.6057T>A	NP_001354991.2:p.Asn2019Lys
NM_001378609.3:c.6192T>A MANE Select	NP_001365538.2:p.Asn2064Lys
NM_001378610.3:c.6192T>A	NP_001365539.2:p.Asn2064Lys
NM_173591.7:c.6192T>A	NP_775862.4:p.Asn2064Lys