Canonical Allele Identifier: CA385888626

Gene: OTOGL

Linked Data

• dbSNP Id: rs1209098813
• gnomAD v2: 12-80752125-C-G
• gnomAD v3: 12-80358345-C-G
• gnomAD v4: 12-80358345-C-G
• MyVariant Identifiers: chr12:g.80752125C>G (hg19) ; chr12:g.80358345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358345C>G , CM000674.2:g.80358345C>G	GRCh38
NC_000012.11:g.80752125C>G , CM000674.1:g.80752125C>G	GRCh37
NC_000012.10:g.79276256C>G	NCBI36
NG_033008.1:g.153893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6117C>G MANE Select	ENSP00000447211.2:p.Tyr2039Ter
ENST00000642294.1:c.57C>G	ENSP00000493572.1:p.Tyr19Ter
ENST00000646859.1:c.5982C>G	ENSP00000496036.1:p.Tyr1994Ter
ENST00000298820.7:c.1418C>G
ENST00000458043.6:c.6090C>G	ENSP00000400895.2:p.Tyr2030Ter
ENST00000546620.5:n.373C>G
ENST00000547103.5:c.6054C>G	ENSP00000447211.1:p.Tyr2018Ter
ENST00000550182.2:c.141C>G	ENSP00000449641.1:p.Tyr47Ter
ENST00000551340.5:c.245C>G
NM_173591.3:c.6090C>G	NP_775862.3:p.Tyr2030Ter
XM_005268802.2:c.6141C>G	XP_005268859.1:p.Tyr2047Ter
XM_011538191.1:c.6141C>G	XP_011536493.1:p.Tyr2047Ter
XM_011538192.1:c.5988C>G	XP_011536494.1:p.Tyr1996Ter
XM_011538193.1:c.5775C>G	XP_011536495.1:p.Tyr1925Ter
XM_005268802.3:c.6141C>G	XP_005268859.1:p.Tyr2047Ter
XM_011538192.2:c.5988C>G	XP_011536494.1:p.Tyr1996Ter
NM_001368062.1:c.5955C>G	NP_001354991.1:p.Tyr1985Ter
NM_001368062.3:c.5982C>G	NP_001354991.2:p.Tyr1994Ter
NM_001378609.3:c.6117C>G MANE Select	NP_001365538.2:p.Tyr2039Ter
NM_001378610.3:c.6117C>G	NP_001365539.2:p.Tyr2039Ter
NM_173591.7:c.6117C>G	NP_775862.4:p.Tyr2039Ter