Canonical Allele Identifier: CA692353979

Gene: OTOGL

Linked Data

• dbSNP Id: rs145638715
• gnomAD v3: 12-80358799-G-C
• gnomAD v4: 12-80358799-G-C
• MyVariant Identifiers: chr12:g.80752579G>C (hg19) ; chr12:g.80358799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358799G>C , CM000674.2:g.80358799G>C	GRCh38
NC_000012.11:g.80752579G>C , CM000674.1:g.80752579G>C	GRCh37
NC_000012.10:g.79276710G>C	NCBI36
NG_033008.1:g.154347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6226+24G>C MANE Select	ENSP00000447211.2:n.6226+24G>C
ENST00000642294.1:c.166+24G>C	ENSP00000493572.1:n.166+24G>C
ENST00000646859.1:c.6091+24G>C	ENSP00000496036.1:n.6091+24G>C
ENST00000298820.7:c.1527+24G>C
ENST00000458043.6:c.6199+24G>C	ENSP00000400895.2:n.6199+24G>C
ENST00000546620.5:n.482+24G>C
ENST00000547103.5:c.6163+24G>C	ENSP00000447211.1:n.6163+24G>C
ENST00000550182.2:c.250+24G>C	ENSP00000449641.1:n.250+24G>C
ENST00000551340.5:c.354+24G>C
NM_173591.3:c.6199+24G>C	NP_775862.3:n.6199+24G>C
XM_005268802.2:c.6250+24G>C	XP_005268859.1:n.6250+24G>C
XM_011538191.1:c.6250+24G>C	XP_011536493.1:n.6250+24G>C
XM_011538192.1:c.6097+24G>C	XP_011536494.1:n.6097+24G>C
XM_011538193.1:c.5884+24G>C	XP_011536495.1:n.5884+24G>C
XM_005268802.3:c.6250+24G>C	XP_005268859.1:n.6250+24G>C
XM_011538192.2:c.6097+24G>C	XP_011536494.1:n.6097+24G>C
NM_001368062.1:c.6064+24G>C	NP_001354991.1:n.6064+24G>C
NM_001368062.3:c.6091+24G>C	NP_001354991.2:n.6091+24G>C
NM_001378609.3:c.6226+24G>C MANE Select	NP_001365538.2:n.6226+24G>C
NM_001378610.3:c.6226+24G>C	NP_001365539.2:n.6226+24G>C
NM_173591.7:c.6226+24G>C	NP_775862.4:n.6226+24G>C