Canonical Allele Identifier: CA385888955

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358884-T-A
• MyVariant Identifiers: chr12:g.80752664T>A (hg19) ; chr12:g.80358884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358884T>A , CM000674.2:g.80358884T>A	GRCh38
NC_000012.11:g.80752664T>A , CM000674.1:g.80752664T>A	GRCh37
NC_000012.10:g.79276795T>A	NCBI36
NG_033008.1:g.154432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6251T>A MANE Select	ENSP00000447211.2:p.Met2084Lys
ENST00000642294.1:c.191T>A	ENSP00000493572.1:p.Met64Lys
ENST00000646859.1:c.6116T>A	ENSP00000496036.1:p.Met2039Lys
ENST00000298820.7:c.1527+109T>A
ENST00000458043.6:c.6224T>A	ENSP00000400895.2:p.Met2075Lys
ENST00000546620.5:n.507T>A
ENST00000547103.5:c.6188T>A	ENSP00000447211.1:p.Met2063Lys
ENST00000550182.2:c.275T>A	ENSP00000449641.1:p.Met92Lys
ENST00000551340.5:c.379T>A
NM_173591.3:c.6224T>A	NP_775862.3:p.Met2075Lys
XM_005268802.2:c.6275T>A	XP_005268859.1:p.Met2092Lys
XM_011538191.1:c.6275T>A	XP_011536493.1:p.Met2092Lys
XM_011538192.1:c.6122T>A	XP_011536494.1:p.Met2041Lys
XM_011538193.1:c.5909T>A	XP_011536495.1:p.Met1970Lys
XM_005268802.3:c.6275T>A	XP_005268859.1:p.Met2092Lys
XM_011538192.2:c.6122T>A	XP_011536494.1:p.Met2041Lys
NM_001368062.1:c.6089T>A	NP_001354991.1:p.Met2030Lys
NM_001368062.3:c.6116T>A	NP_001354991.2:p.Met2039Lys
NM_001378609.3:c.6251T>A MANE Select	NP_001365538.2:p.Met2084Lys
NM_001378610.3:c.6251T>A	NP_001365539.2:p.Met2084Lys
NM_173591.7:c.6251T>A	NP_775862.4:p.Met2084Lys