Canonical Allele Identifier: CA480810207

Gene: OTOGL

Linked Data

• dbSNP Id: rs1425503340
• gnomAD v2: 12-80632662-A-G
• gnomAD v3: 12-80238882-A-G
• gnomAD v4: 12-80238882-A-G
• MyVariant Identifiers: chr12:g.80632662A>G (hg19) ; chr12:g.80238882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238882A>G , CM000674.2:g.80238882A>G	GRCh38
NC_000012.11:g.80632662A>G , CM000674.1:g.80632662A>G	GRCh37
NC_000012.10:g.79156793A>G	NCBI36
NG_033008.1:g.34430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.849A>G MANE Select	ENSP00000447211.2:p.Ala283=
ENST00000643417.1:n.1509A>G
ENST00000646859.1:c.849A>G	ENSP00000496036.1:p.Ala283=
ENST00000458043.6:c.822A>G	ENSP00000400895.2:p.Ala274=
ENST00000547103.5:c.822A>G	ENSP00000447211.1:p.Ala274=
NM_173591.3:c.822A>G	NP_775862.3:p.Ala274=
XM_005268802.2:c.873A>G	XP_005268859.1:p.Ala291=
XM_011538191.1:c.873A>G	XP_011536493.1:p.Ala291=
XM_011538192.1:c.720A>G	XP_011536494.1:p.Ala240=
XM_011538193.1:c.507A>G	XP_011536495.1:p.Ala169=
XM_005268802.3:c.873A>G	XP_005268859.1:p.Ala291=
XM_011538192.2:c.720A>G	XP_011536494.1:p.Ala240=
NM_001368062.1:c.822A>G	NP_001354991.1:p.Ala274=
NM_001368062.3:c.849A>G	NP_001354991.2:p.Ala283=
NM_001378609.3:c.849A>G MANE Select	NP_001365538.2:p.Ala283=
NM_001378610.3:c.849A>G	NP_001365539.2:p.Ala283=
NM_173591.7:c.849A>G	NP_775862.4:p.Ala283=