Canonical Allele Identifier: CA343161794

Gene: GORAB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539219A>T , CM000663.2:g.170539219A>T	GRCh38
NC_000001.10:g.170508360A>T , CM000663.1:g.170508360A>T	GRCh37
NC_000001.9:g.168774984A>T	NCBI36
NG_012237.1:g.12098A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152281.3:c.71A>T MANE Select	NP_689494.3:p.Glu24Val
ENST00000367763.8:c.71A>T MANE Select	ENSP00000356737.4:p.Glu24Val
NM_001146039.1:c.146A>T	NP_001139511.1:p.Glu49Val
NM_001146039.2:c.71A>T	NP_001139511.2:p.Glu24Val
NM_001320252.1:c.-395A>T	NP_001307181.1:n.-395A>T
NM_001320252.2:c.-395A>T	NP_001307181.1:n.-395A>T
NM_152281.2:c.146A>T	NP_689494.2:p.Glu49Val
NR_027397.1:n.173A>T
NR_027397.2:n.129A>T
ENST00000367762.1:c.146A>T	ENSP00000356736.1:p.Glu49Val
ENST00000367762.2:c.71A>T	ENSP00000356736.2:p.Glu24Val
ENST00000367763.7:c.146A>T	ENSP00000356737.3:p.Glu49Val
ENST00000465717.1:n.157A>T
ENST00000498166.5:c.444A>T
ENST00000498166.6:c.*65A>T	ENSP00000473336.2:n.*65A>T
ENST00000498600.2:n.158A>T
ENST00000684929.1:n.40A>T
ENST00000685515.1:c.259A>T	ENSP00000509073.1:p.Asn87Tyr
ENST00000685976.1:n.176A>T
ENST00000686135.1:n.1531A>T
ENST00000686870.1:c.71A>T	ENSP00000510121.1:p.Glu24Val
ENST00000687370.1:n.3087A>T
ENST00000687880.1:c.*65A>T	ENSP00000508486.1:n.*65A>T
ENST00000688499.1:c.259A>T	ENSP00000509581.1:p.Asn87Tyr
ENST00000688688.1:c.20A>T	ENSP00000510426.1:p.Glu7Val
ENST00000689173.1:c.*65A>T	ENSP00000509341.1:n.*65A>T
ENST00000690124.1:n.235A>T
ENST00000690898.1:n.260A>T
ENST00000691199.1:n.191-3272A>T
ENST00000691235.1:n.139-3272A>T
ENST00000691574.1:n.105A>T
ENST00000692234.1:c.259A>T	ENSP00000508508.1:p.Asn87Tyr
ENST00000692855.1:n.222A>T
ENST00000692875.1:c.20A>T	ENSP00000508785.1:p.Glu7Val
ENST00000693173.1:c.*65A>T	ENSP00000510143.1:n.*65A>T
ENST00000693373.1:n.59A>T
XM_006711628.2:c.-399A>T	XP_006711691.1:n.-399A>T
XM_006711628.4:c.-399A>T	XP_006711691.1:n.-399A>T
XM_006711629.2:c.-395A>T	XP_006711692.1:n.-395A>T
XM_011510149.1:c.95A>T	XP_011508451.1:p.Glu32Val
XM_011510149.2:c.95A>T	XP_011508451.1:p.Glu32Val
XM_011510150.1:c.-399A>T	XP_011508452.1:n.-399A>T
XM_011510150.3:c.-399A>T	XP_011508452.1:n.-399A>T
XM_011510151.1:c.-399A>T	XP_011508453.1:n.-399A>T
XM_017002807.1:c.-399A>T	XP_016858296.1:n.-399A>T
XM_024450864.1:c.-395A>T	XP_024306632.1:n.-395A>T