Canonical Allele Identifier: CA606202933

Gene: OTOGL

Linked Data

• dbSNP Id: rs1395841645
• gnomAD v2: 12-80752625-A-T
• gnomAD v4: 12-80358845-A-T
• MyVariant Identifiers: chr12:g.80752625A>T (hg19) ; chr12:g.80358845A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358845A>T , CM000674.2:g.80358845A>T	GRCh38
NC_000012.11:g.80752625A>T , CM000674.1:g.80752625A>T	GRCh37
NC_000012.10:g.79276756A>T	NCBI36
NG_033008.1:g.154393A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6227-15A>T MANE Select	ENSP00000447211.2:n.6227-15A>T
ENST00000642294.1:c.167-15A>T	ENSP00000493572.1:n.167-15A>T
ENST00000646859.1:c.6092-15A>T	ENSP00000496036.1:n.6092-15A>T
ENST00000298820.7:c.1527+70A>T
ENST00000458043.6:c.6200-15A>T	ENSP00000400895.2:n.6200-15A>T
ENST00000546620.5:n.483-15A>T
ENST00000547103.5:c.6164-15A>T	ENSP00000447211.1:n.6164-15A>T
ENST00000550182.2:c.251-15A>T	ENSP00000449641.1:n.251-15A>T
ENST00000551340.5:c.355-15A>T
NM_173591.3:c.6200-15A>T	NP_775862.3:n.6200-15A>T
XM_005268802.2:c.6251-15A>T	XP_005268859.1:n.6251-15A>T
XM_011538191.1:c.6251-15A>T	XP_011536493.1:n.6251-15A>T
XM_011538192.1:c.6098-15A>T	XP_011536494.1:n.6098-15A>T
XM_011538193.1:c.5885-15A>T	XP_011536495.1:n.5885-15A>T
XM_005268802.3:c.6251-15A>T	XP_005268859.1:n.6251-15A>T
XM_011538192.2:c.6098-15A>T	XP_011536494.1:n.6098-15A>T
NM_001368062.1:c.6065-15A>T	NP_001354991.1:n.6065-15A>T
NM_001368062.3:c.6092-15A>T	NP_001354991.2:n.6092-15A>T
NM_001378609.3:c.6227-15A>T MANE Select	NP_001365538.2:n.6227-15A>T
NM_001378610.3:c.6227-15A>T	NP_001365539.2:n.6227-15A>T
NM_173591.7:c.6227-15A>T	NP_775862.4:n.6227-15A>T