Canonical Allele Identifier: CA6701718

Gene: OTOGL

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80353366C>T , CM000674.2:g.80353366C>T	GRCh38
NC_000012.11:g.80747146C>T , CM000674.1:g.80747146C>T	GRCh37
NC_000012.10:g.79271277C>T	NCBI36
NG_033008.1:g.148914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.5449C>T MANE Select	ENSP00000447211.2:p.Arg1817Ter
ENST00000646859.1:c.5314C>T	ENSP00000496036.1:p.Arg1772Ter
ENST00000298820.7:c.750C>T
ENST00000458043.6:c.5422C>T	ENSP00000400895.2:p.Arg1808Ter
ENST00000547103.5:c.5386C>T	ENSP00000447211.1:p.Arg1796Ter
NM_173591.3:c.5422C>T	NP_775862.3:p.Arg1808Ter
XM_005268802.2:c.5473C>T	XP_005268859.1:p.Arg1825Ter
XM_011538191.1:c.5473C>T	XP_011536493.1:p.Arg1825Ter
XM_011538192.1:c.5320C>T	XP_011536494.1:p.Arg1774Ter
XM_011538193.1:c.5107C>T	XP_011536495.1:p.Arg1703Ter
XM_005268802.3:c.5473C>T	XP_005268859.1:p.Arg1825Ter
XM_011538192.2:c.5320C>T	XP_011536494.1:p.Arg1774Ter
NM_001368062.1:c.5287C>T	NP_001354991.1:p.Arg1763Ter
NM_001368062.3:c.5314C>T	NP_001354991.2:p.Arg1772Ter
NM_001378609.3:c.5449C>T MANE Select	NP_001365538.2:p.Arg1817Ter
NM_001378610.3:c.5449C>T	NP_001365539.2:p.Arg1817Ter
NM_173591.7:c.5449C>T	NP_775862.4:p.Arg1817Ter