Canonical Allele Identifier: CA6701951

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 1630747
• ClinVar RCV Id: RCV002121413
• dbSNP Id: rs369903157
• ExAC: 12:80752626 T / C
• gnomAD v2: 12-80752626-T-C
• gnomAD v3: 12-80358846-T-C
• gnomAD v4: 12-80358846-T-C
• MyVariant Identifiers: chr12:g.80752626T>C (hg19) ; chr12:g.80358846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358846T>C , CM000674.2:g.80358846T>C	GRCh38
NC_000012.11:g.80752626T>C , CM000674.1:g.80752626T>C	GRCh37
NC_000012.10:g.79276757T>C	NCBI36
NG_033008.1:g.154394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6227-14T>C MANE Select	ENSP00000447211.2:n.6227-14T>C
ENST00000642294.1:c.167-14T>C	ENSP00000493572.1:n.167-14T>C
ENST00000646859.1:c.6092-14T>C	ENSP00000496036.1:n.6092-14T>C
ENST00000298820.7:c.1527+71T>C
ENST00000458043.6:c.6200-14T>C	ENSP00000400895.2:n.6200-14T>C
ENST00000546620.5:n.483-14T>C
ENST00000547103.5:c.6164-14T>C	ENSP00000447211.1:n.6164-14T>C
ENST00000550182.2:c.251-14T>C	ENSP00000449641.1:n.251-14T>C
ENST00000551340.5:c.355-14T>C
NM_173591.3:c.6200-14T>C	NP_775862.3:n.6200-14T>C
XM_005268802.2:c.6251-14T>C	XP_005268859.1:n.6251-14T>C
XM_011538191.1:c.6251-14T>C	XP_011536493.1:n.6251-14T>C
XM_011538192.1:c.6098-14T>C	XP_011536494.1:n.6098-14T>C
XM_011538193.1:c.5885-14T>C	XP_011536495.1:n.5885-14T>C
XM_005268802.3:c.6251-14T>C	XP_005268859.1:n.6251-14T>C
XM_011538192.2:c.6098-14T>C	XP_011536494.1:n.6098-14T>C
NM_001368062.1:c.6065-14T>C	NP_001354991.1:n.6065-14T>C
NM_001368062.3:c.6092-14T>C	NP_001354991.2:n.6092-14T>C
NM_001378609.3:c.6227-14T>C MANE Select	NP_001365538.2:n.6227-14T>C
NM_001378610.3:c.6227-14T>C	NP_001365539.2:n.6227-14T>C
NM_173591.7:c.6227-14T>C	NP_775862.4:n.6227-14T>C