Canonical Allele Identifier: CA385850043

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80238879-T-A
• MyVariant Identifiers: chr12:g.80632659T>A (hg19) ; chr12:g.80238879T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238879T>A , CM000674.2:g.80238879T>A	GRCh38
NC_000012.11:g.80632659T>A , CM000674.1:g.80632659T>A	GRCh37
NC_000012.10:g.79156790T>A	NCBI36
NG_033008.1:g.34427T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.846T>A MANE Select	ENSP00000447211.2:p.Phe282Leu
ENST00000643417.1:n.1506T>A
ENST00000646859.1:c.846T>A	ENSP00000496036.1:p.Phe282Leu
ENST00000458043.6:c.819T>A	ENSP00000400895.2:p.Phe273Leu
ENST00000547103.5:c.819T>A	ENSP00000447211.1:p.Phe273Leu
NM_173591.3:c.819T>A	NP_775862.3:p.Phe273Leu
XM_005268802.2:c.870T>A	XP_005268859.1:p.Phe290Leu
XM_011538191.1:c.870T>A	XP_011536493.1:p.Phe290Leu
XM_011538192.1:c.717T>A	XP_011536494.1:p.Phe239Leu
XM_011538193.1:c.504T>A	XP_011536495.1:p.Phe168Leu
XM_005268802.3:c.870T>A	XP_005268859.1:p.Phe290Leu
XM_011538192.2:c.717T>A	XP_011536494.1:p.Phe239Leu
NM_001368062.1:c.819T>A	NP_001354991.1:p.Phe273Leu
NM_001368062.3:c.846T>A	NP_001354991.2:p.Phe282Leu
NM_001378609.3:c.846T>A MANE Select	NP_001365538.2:p.Phe282Leu
NM_001378610.3:c.846T>A	NP_001365539.2:p.Phe282Leu
NM_173591.7:c.846T>A	NP_775862.4:p.Phe282Leu