Canonical Allele Identifier: CA343163175

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508704G>A (hg19) ; chr1:g.170539563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539563G>A , CM000663.2:g.170539563G>A	GRCh38
NC_000001.10:g.170508704G>A , CM000663.1:g.170508704G>A	GRCh37
NC_000001.9:g.168775328G>A	NCBI36
NG_012237.1:g.12442G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.384G>A
ENST00000685515.1:c.*279G>A	ENSP00000509073.1:n.*279G>A
ENST00000685976.1:n.520G>A
ENST00000686135.1:n.1875G>A
ENST00000686870.1:c.415G>A	ENSP00000510121.1:p.Glu139Lys
ENST00000687370.1:n.3431G>A
ENST00000687880.1:c.*409G>A	ENSP00000508486.1:n.*409G>A
ENST00000688499.1:c.*279G>A	ENSP00000509581.1:n.*279G>A
ENST00000688688.1:c.364G>A	ENSP00000510426.1:p.Glu122Lys
ENST00000689173.1:c.*409G>A	ENSP00000509341.1:n.*409G>A
ENST00000690124.1:n.579G>A
ENST00000690898.1:n.604G>A
ENST00000691199.1:n.191-2928G>A
ENST00000691235.1:n.139-2928G>A
ENST00000691574.1:n.449G>A
ENST00000692234.1:c.*279G>A	ENSP00000508508.1:n.*279G>A
ENST00000692855.1:n.566G>A
ENST00000692875.1:c.364G>A	ENSP00000508785.1:p.Glu122Lys
ENST00000693173.1:c.*409G>A	ENSP00000510143.1:n.*409G>A
ENST00000693373.1:n.403G>A
ENST00000367762.2:c.415G>A	ENSP00000356736.2:p.Glu139Lys
ENST00000367763.8:c.415G>A MANE Select	ENSP00000356737.4:p.Glu139Lys
ENST00000498166.6:c.*409G>A	ENSP00000473336.2:n.*409G>A
ENST00000367762.1:c.490G>A	ENSP00000356736.1:p.Glu164Lys
ENST00000367763.7:c.490G>A	ENSP00000356737.3:p.Glu164Lys
ENST00000465717.1:n.501G>A
ENST00000498166.5:c.788G>A
ENST00000498600.2:n.502G>A
NM_001146039.1:c.490G>A	NP_001139511.1:p.Glu164Lys
NM_152281.2:c.490G>A	NP_689494.2:p.Glu164Lys
NR_027397.1:n.517G>A
XM_006711628.2:c.-55G>A	XP_006711691.1:n.-55G>A
XM_006711629.2:c.-51G>A	XP_006711692.1:n.-51G>A
XM_011510149.1:c.439G>A	XP_011508451.1:p.Glu147Lys
XM_011510150.1:c.-55G>A	XP_011508452.1:n.-55G>A
XM_011510151.1:c.-55G>A	XP_011508453.1:n.-55G>A
NM_001320252.1:c.-51G>A	NP_001307181.1:n.-51G>A
XM_006711628.4:c.-55G>A	XP_006711691.1:n.-55G>A
XM_011510149.2:c.439G>A	XP_011508451.1:p.Glu147Lys
XM_011510150.3:c.-55G>A	XP_011508452.1:n.-55G>A
XM_017002807.1:c.-55G>A	XP_016858296.1:n.-55G>A
XM_024450864.1:c.-51G>A	XP_024306632.1:n.-51G>A
NM_001146039.2:c.415G>A	NP_001139511.2:p.Glu139Lys
NM_001320252.2:c.-51G>A	NP_001307181.1:n.-51G>A
NM_152281.3:c.415G>A MANE Select	NP_689494.3:p.Glu139Lys
NR_027397.2:n.473G>A