Canonical Allele Identifier: CA385888960

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358886-C-A
• MyVariant Identifiers: chr12:g.80752666C>A (hg19) ; chr12:g.80358886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358886C>A , CM000674.2:g.80358886C>A	GRCh38
NC_000012.11:g.80752666C>A , CM000674.1:g.80752666C>A	GRCh37
NC_000012.10:g.79276797C>A	NCBI36
NG_033008.1:g.154434C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6253C>A MANE Select	ENSP00000447211.2:p.Pro2085Thr
ENST00000642294.1:c.193C>A	ENSP00000493572.1:p.Pro65Thr
ENST00000646859.1:c.6118C>A	ENSP00000496036.1:p.Pro2040Thr
ENST00000298820.7:c.1527+111C>A
ENST00000458043.6:c.6226C>A	ENSP00000400895.2:p.Pro2076Thr
ENST00000546620.5:n.509C>A
ENST00000547103.5:c.6190C>A	ENSP00000447211.1:p.Pro2064Thr
ENST00000550182.2:c.277C>A	ENSP00000449641.1:p.Pro93Thr
ENST00000551340.5:c.381C>A
NM_173591.3:c.6226C>A	NP_775862.3:p.Pro2076Thr
XM_005268802.2:c.6277C>A	XP_005268859.1:p.Pro2093Thr
XM_011538191.1:c.6277C>A	XP_011536493.1:p.Pro2093Thr
XM_011538192.1:c.6124C>A	XP_011536494.1:p.Pro2042Thr
XM_011538193.1:c.5911C>A	XP_011536495.1:p.Pro1971Thr
XM_005268802.3:c.6277C>A	XP_005268859.1:p.Pro2093Thr
XM_011538192.2:c.6124C>A	XP_011536494.1:p.Pro2042Thr
NM_001368062.1:c.6091C>A	NP_001354991.1:p.Pro2031Thr
NM_001368062.3:c.6118C>A	NP_001354991.2:p.Pro2040Thr
NM_001378609.3:c.6253C>A MANE Select	NP_001365538.2:p.Pro2085Thr
NM_001378610.3:c.6253C>A	NP_001365539.2:p.Pro2085Thr
NM_173591.7:c.6253C>A	NP_775862.4:p.Pro2085Thr