Canonical Allele Identifier: CA480823054

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 501576
• ClinVar RCV Id: RCV000591392
• dbSNP Id: rs1555303628
• gnomAD v4: 12-80358681-A-G
• MyVariant Identifiers: chr12:g.80752461A>G (hg19) ; chr12:g.80358681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358681A>G , CM000674.2:g.80358681A>G	GRCh38
NC_000012.11:g.80752461A>G , CM000674.1:g.80752461A>G	GRCh37
NC_000012.10:g.79276592A>G	NCBI36
NG_033008.1:g.154229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6132A>G MANE Select	ENSP00000447211.2:p.Pro2044=
ENST00000642294.1:c.72A>G	ENSP00000493572.1:p.Pro24=
ENST00000646859.1:c.5997A>G	ENSP00000496036.1:p.Pro1999=
ENST00000298820.7:c.1433A>G
ENST00000458043.6:c.6105A>G	ENSP00000400895.2:p.Pro2035=
ENST00000546620.5:n.388A>G
ENST00000547103.5:c.6069A>G	ENSP00000447211.1:p.Pro2023=
ENST00000550182.2:c.156A>G	ENSP00000449641.1:p.Pro52=
ENST00000551340.5:c.260A>G
NM_173591.3:c.6105A>G	NP_775862.3:p.Pro2035=
XM_005268802.2:c.6156A>G	XP_005268859.1:p.Pro2052=
XM_011538191.1:c.6156A>G	XP_011536493.1:p.Pro2052=
XM_011538192.1:c.6003A>G	XP_011536494.1:p.Pro2001=
XM_011538193.1:c.5790A>G	XP_011536495.1:p.Pro1930=
XM_005268802.3:c.6156A>G	XP_005268859.1:p.Pro2052=
XM_011538192.2:c.6003A>G	XP_011536494.1:p.Pro2001=
NM_001368062.1:c.5970A>G	NP_001354991.1:p.Pro1990=
NM_001368062.3:c.5997A>G	NP_001354991.2:p.Pro1999=
NM_001378609.3:c.6132A>G MANE Select	NP_001365538.2:p.Pro2044=
NM_001378610.3:c.6132A>G	NP_001365539.2:p.Pro2044=
NM_173591.7:c.6132A>G	NP_775862.4:p.Pro2044=