Canonical Allele Identifier: CA6701956

Gene: OTOGL

Linked Data

• dbSNP Id: rs550464057
• ExAC: 12:80752661 T / C
• gnomAD v2: 12-80752661-T-C
• gnomAD v3: 12-80358881-T-C
• gnomAD v4: 12-80358881-T-C
• MyVariant Identifiers: chr12:g.80752661T>C (hg19) ; chr12:g.80358881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358881T>C , CM000674.2:g.80358881T>C	GRCh38
NC_000012.11:g.80752661T>C , CM000674.1:g.80752661T>C	GRCh37
NC_000012.10:g.79276792T>C	NCBI36
NG_033008.1:g.154429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6248T>C MANE Select	ENSP00000447211.2:p.Ile2083Thr
ENST00000642294.1:c.188T>C	ENSP00000493572.1:p.Ile63Thr
ENST00000646859.1:c.6113T>C	ENSP00000496036.1:p.Ile2038Thr
ENST00000298820.7:c.1527+106T>C
ENST00000458043.6:c.6221T>C	ENSP00000400895.2:p.Ile2074Thr
ENST00000546620.5:n.504T>C
ENST00000547103.5:c.6185T>C	ENSP00000447211.1:p.Ile2062Thr
ENST00000550182.2:c.272T>C	ENSP00000449641.1:p.Ile91Thr
ENST00000551340.5:c.376T>C
NM_173591.3:c.6221T>C	NP_775862.3:p.Ile2074Thr
XM_005268802.2:c.6272T>C	XP_005268859.1:p.Ile2091Thr
XM_011538191.1:c.6272T>C	XP_011536493.1:p.Ile2091Thr
XM_011538192.1:c.6119T>C	XP_011536494.1:p.Ile2040Thr
XM_011538193.1:c.5906T>C	XP_011536495.1:p.Ile1969Thr
XM_005268802.3:c.6272T>C	XP_005268859.1:p.Ile2091Thr
XM_011538192.2:c.6119T>C	XP_011536494.1:p.Ile2040Thr
NM_001368062.1:c.6086T>C	NP_001354991.1:p.Ile2029Thr
NM_001368062.3:c.6113T>C	NP_001354991.2:p.Ile2038Thr
NM_001378609.3:c.6248T>C MANE Select	NP_001365538.2:p.Ile2083Thr
NM_001378610.3:c.6248T>C	NP_001365539.2:p.Ile2083Thr
NM_173591.7:c.6248T>C	NP_775862.4:p.Ile2083Thr