Canonical Allele Identifier: CA6701959

Gene: OTOGL

Linked Data

• dbSNP Id: rs780503427
• ExAC: 12:80752666 C / T
• gnomAD v4: 12-80358886-C-T
• MyVariant Identifiers: chr12:g.80752666C>T (hg19) ; chr12:g.80358886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358886C>T , CM000674.2:g.80358886C>T	GRCh38
NC_000012.11:g.80752666C>T , CM000674.1:g.80752666C>T	GRCh37
NC_000012.10:g.79276797C>T	NCBI36
NG_033008.1:g.154434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6253C>T MANE Select	ENSP00000447211.2:p.Pro2085Ser
ENST00000642294.1:c.193C>T	ENSP00000493572.1:p.Pro65Ser
ENST00000646859.1:c.6118C>T	ENSP00000496036.1:p.Pro2040Ser
ENST00000298820.7:c.1527+111C>T
ENST00000458043.6:c.6226C>T	ENSP00000400895.2:p.Pro2076Ser
ENST00000546620.5:n.509C>T
ENST00000547103.5:c.6190C>T	ENSP00000447211.1:p.Pro2064Ser
ENST00000550182.2:c.277C>T	ENSP00000449641.1:p.Pro93Ser
ENST00000551340.5:c.381C>T
NM_173591.3:c.6226C>T	NP_775862.3:p.Pro2076Ser
XM_005268802.2:c.6277C>T	XP_005268859.1:p.Pro2093Ser
XM_011538191.1:c.6277C>T	XP_011536493.1:p.Pro2093Ser
XM_011538192.1:c.6124C>T	XP_011536494.1:p.Pro2042Ser
XM_011538193.1:c.5911C>T	XP_011536495.1:p.Pro1971Ser
XM_005268802.3:c.6277C>T	XP_005268859.1:p.Pro2093Ser
XM_011538192.2:c.6124C>T	XP_011536494.1:p.Pro2042Ser
NM_001368062.1:c.6091C>T	NP_001354991.1:p.Pro2031Ser
NM_001368062.3:c.6118C>T	NP_001354991.2:p.Pro2040Ser
NM_001378609.3:c.6253C>T MANE Select	NP_001365538.2:p.Pro2085Ser
NM_001378610.3:c.6253C>T	NP_001365539.2:p.Pro2085Ser
NM_173591.7:c.6253C>T	NP_775862.4:p.Pro2085Ser