Canonical Allele Identifier: CA606202949

Gene: OTOGL

Linked Data

• dbSNP Id: rs1172573349
• gnomAD v2: 12-80752683-A-G
• gnomAD v4: 12-80358903-A-G
• MyVariant Identifiers: chr12:g.80752683A>G (hg19) ; chr12:g.80358903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358903A>G , CM000674.2:g.80358903A>G	GRCh38
NC_000012.11:g.80752683A>G , CM000674.1:g.80752683A>G	GRCh37
NC_000012.10:g.79276814A>G	NCBI36
NG_033008.1:g.154451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+3A>G MANE Select	ENSP00000447211.2:n.6267+3A>G
ENST00000642294.1:c.207+3A>G	ENSP00000493572.1:n.207+3A>G
ENST00000646859.1:c.6132+3A>G	ENSP00000496036.1:n.6132+3A>G
ENST00000298820.7:c.1527+128A>G
ENST00000458043.6:c.6240+3A>G	ENSP00000400895.2:n.6240+3A>G
ENST00000546620.5:n.523+3A>G
ENST00000547103.5:c.6204+3A>G	ENSP00000447211.1:n.6204+3A>G
ENST00000550182.2:c.291+3A>G	ENSP00000449641.1:n.291+3A>G
ENST00000551340.5:c.395+3A>G
NM_173591.3:c.6240+3A>G	NP_775862.3:n.6240+3A>G
XM_005268802.2:c.6291+3A>G	XP_005268859.1:n.6291+3A>G
XM_011538191.1:c.6291+3A>G	XP_011536493.1:n.6291+3A>G
XM_011538192.1:c.6138+3A>G	XP_011536494.1:n.6138+3A>G
XM_011538193.1:c.5925+3A>G	XP_011536495.1:n.5925+3A>G
XM_005268802.3:c.6291+3A>G	XP_005268859.1:n.6291+3A>G
XM_011538192.2:c.6138+3A>G	XP_011536494.1:n.6138+3A>G
NM_001368062.1:c.6105+3A>G	NP_001354991.1:n.6105+3A>G
NM_001368062.3:c.6132+3A>G	NP_001354991.2:n.6132+3A>G
NM_001378609.3:c.6267+3A>G MANE Select	NP_001365538.2:n.6267+3A>G
NM_001378610.3:c.6267+3A>G	NP_001365539.2:n.6267+3A>G
NM_173591.7:c.6267+3A>G	NP_775862.4:n.6267+3A>G