Canonical Allele Identifier: CA385888857

Gene: OTOGL

Linked Data

• dbSNP Id: rs1890065315
• gnomAD v3: 12-80358761-C-A
• gnomAD v4: 12-80358761-C-A
• MyVariant Identifiers: chr12:g.80752541C>A (hg19) ; chr12:g.80358761C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358761C>A , CM000674.2:g.80358761C>A	GRCh38
NC_000012.11:g.80752541C>A , CM000674.1:g.80752541C>A	GRCh37
NC_000012.10:g.79276672C>A	NCBI36
NG_033008.1:g.154309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6212C>A MANE Select	ENSP00000447211.2:p.Pro2071Gln
ENST00000642294.1:c.152C>A	ENSP00000493572.1:p.Pro51Gln
ENST00000646859.1:c.6077C>A	ENSP00000496036.1:p.Pro2026Gln
ENST00000298820.7:c.1513C>A
ENST00000458043.6:c.6185C>A	ENSP00000400895.2:p.Pro2062Gln
ENST00000546620.5:n.468C>A
ENST00000547103.5:c.6149C>A	ENSP00000447211.1:p.Pro2050Gln
ENST00000550182.2:c.236C>A	ENSP00000449641.1:p.Pro79Gln
ENST00000551340.5:c.340C>A
NM_173591.3:c.6185C>A	NP_775862.3:p.Pro2062Gln
XM_005268802.2:c.6236C>A	XP_005268859.1:p.Pro2079Gln
XM_011538191.1:c.6236C>A	XP_011536493.1:p.Pro2079Gln
XM_011538192.1:c.6083C>A	XP_011536494.1:p.Pro2028Gln
XM_011538193.1:c.5870C>A	XP_011536495.1:p.Pro1957Gln
XM_005268802.3:c.6236C>A	XP_005268859.1:p.Pro2079Gln
XM_011538192.2:c.6083C>A	XP_011536494.1:p.Pro2028Gln
NM_001368062.1:c.6050C>A	NP_001354991.1:p.Pro2017Gln
NM_001368062.3:c.6077C>A	NP_001354991.2:p.Pro2026Gln
NM_001378609.3:c.6212C>A MANE Select	NP_001365538.2:p.Pro2071Gln
NM_001378610.3:c.6212C>A	NP_001365539.2:p.Pro2071Gln
NM_173591.7:c.6212C>A	NP_775862.4:p.Pro2071Gln