Canonical Allele Identifier: CA385888948

Gene: OTOGL

Linked Data

• dbSNP Id: rs2034528
• gnomAD v3: 12-80358880-A-T
• gnomAD v4: 12-80358880-A-T
• MyVariant Identifiers: chr12:g.80752660A>T (hg19) ; chr12:g.80358880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358880A>T , CM000674.2:g.80358880A>T	GRCh38
NC_000012.11:g.80752660A>T , CM000674.1:g.80752660A>T	GRCh37
NC_000012.10:g.79276791A>T	NCBI36
NG_033008.1:g.154428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6247A>T MANE Select	ENSP00000447211.2:p.Ile2083Phe
ENST00000642294.1:c.187A>T	ENSP00000493572.1:p.Ile63Phe
ENST00000646859.1:c.6112A>T	ENSP00000496036.1:p.Ile2038Phe
ENST00000298820.7:c.1527+105A>T
ENST00000458043.6:c.6220A>T	ENSP00000400895.2:p.Ile2074Phe
ENST00000546620.5:n.503A>T
ENST00000547103.5:c.6184A>T	ENSP00000447211.1:p.Ile2062Phe
ENST00000550182.2:c.271A>T	ENSP00000449641.1:p.Ile91Phe
ENST00000551340.5:c.375A>T
NM_173591.3:c.6220A>T	NP_775862.3:p.Ile2074Phe
XM_005268802.2:c.6271A>T	XP_005268859.1:p.Ile2091Phe
XM_011538191.1:c.6271A>T	XP_011536493.1:p.Ile2091Phe
XM_011538192.1:c.6118A>T	XP_011536494.1:p.Ile2040Phe
XM_011538193.1:c.5905A>T	XP_011536495.1:p.Ile1969Phe
XM_005268802.3:c.6271A>T	XP_005268859.1:p.Ile2091Phe
XM_011538192.2:c.6118A>T	XP_011536494.1:p.Ile2040Phe
NM_001368062.1:c.6085A>T	NP_001354991.1:p.Ile2029Phe
NM_001368062.3:c.6112A>T	NP_001354991.2:p.Ile2038Phe
NM_001378609.3:c.6247A>T MANE Select	NP_001365538.2:p.Ile2083Phe
NM_001378610.3:c.6247A>T	NP_001365539.2:p.Ile2083Phe
NM_173591.7:c.6247A>T	NP_775862.4:p.Ile2083Phe