Canonical Allele Identifier: CA385888765

Gene: OTOGL

Linked Data

• dbSNP Id: rs1388452990
• gnomAD v2: 12-80752501-A-G
• gnomAD v4: 12-80358721-A-G
• MyVariant Identifiers: chr12:g.80752501A>G (hg19) ; chr12:g.80358721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358721A>G , CM000674.2:g.80358721A>G	GRCh38
NC_000012.11:g.80752501A>G , CM000674.1:g.80752501A>G	GRCh37
NC_000012.10:g.79276632A>G	NCBI36
NG_033008.1:g.154269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6172A>G MANE Select	ENSP00000447211.2:p.Met2058Val
ENST00000642294.1:c.112A>G	ENSP00000493572.1:p.Met38Val
ENST00000646859.1:c.6037A>G	ENSP00000496036.1:p.Met2013Val
ENST00000298820.7:c.1473A>G
ENST00000458043.6:c.6145A>G	ENSP00000400895.2:p.Met2049Val
ENST00000546620.5:n.428A>G
ENST00000547103.5:c.6109A>G	ENSP00000447211.1:p.Met2037Val
ENST00000550182.2:c.196A>G	ENSP00000449641.1:p.Met66Val
ENST00000551340.5:c.300A>G
NM_173591.3:c.6145A>G	NP_775862.3:p.Met2049Val
XM_005268802.2:c.6196A>G	XP_005268859.1:p.Met2066Val
XM_011538191.1:c.6196A>G	XP_011536493.1:p.Met2066Val
XM_011538192.1:c.6043A>G	XP_011536494.1:p.Met2015Val
XM_011538193.1:c.5830A>G	XP_011536495.1:p.Met1944Val
XM_005268802.3:c.6196A>G	XP_005268859.1:p.Met2066Val
XM_011538192.2:c.6043A>G	XP_011536494.1:p.Met2015Val
NM_001368062.1:c.6010A>G	NP_001354991.1:p.Met2004Val
NM_001368062.3:c.6037A>G	NP_001354991.2:p.Met2013Val
NM_001378609.3:c.6172A>G MANE Select	NP_001365538.2:p.Met2058Val
NM_001378610.3:c.6172A>G	NP_001365539.2:p.Met2058Val
NM_173591.7:c.6172A>G	NP_775862.4:p.Met2058Val