Canonical Allele Identifier: CA130552

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.80229341C>T , CM000674.2:g.80229341C>T	GRCh38
NC_000012.11:g.80623121C>T , CM000674.1:g.80623121C>T	GRCh37
NC_000012.10:g.79147252C>T	NCBI36
NG_033008.1:g.24889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.574C>T MANE Select	ENSP00000447211.2:p.Arg192Ter
ENST00000643417.1:n.1234C>T
ENST00000646859.1:c.574C>T	ENSP00000496036.1:p.Arg192Ter
ENST00000458043.6:c.547C>T	ENSP00000400895.2:p.Arg183Ter
ENST00000547103.5:c.547C>T	ENSP00000447211.1:p.Arg183Ter
NM_173591.3:c.547C>T	NP_775862.3:p.Arg183Ter
XM_005268802.2:c.598C>T	XP_005268859.1:p.Arg200Ter
XM_011538191.1:c.598C>T	XP_011536493.1:p.Arg200Ter
XM_011538192.1:c.445C>T	XP_011536494.1:p.Arg149Ter
XM_011538193.1:c.232C>T	XP_011536495.1:p.Arg78Ter
XM_005268802.3:c.598C>T	XP_005268859.1:p.Arg200Ter
XM_011538192.2:c.445C>T	XP_011536494.1:p.Arg149Ter
NM_001368062.1:c.547C>T	NP_001354991.1:p.Arg183Ter
NM_001368062.3:c.574C>T	NP_001354991.2:p.Arg192Ter
NM_001378609.3:c.574C>T MANE Select	NP_001365538.2:p.Arg192Ter
NM_001378610.3:c.574C>T	NP_001365539.2:p.Arg192Ter
NM_173591.7:c.574C>T	NP_775862.4:p.Arg192Ter