Canonical Allele Identifier: CA421933480

Gene: GORAB

Linked Data

• gnomAD v4: 1-170539517-G-A
• MyVariant Identifiers: chr1:g.170508658G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539517G>A , CM000663.2:g.170539517G>A	GRCh38
NC_000001.10:g.170508658G>A , CM000663.1:g.170508658G>A	GRCh37
NC_000001.9:g.168775282G>A	NCBI36
NG_012237.1:g.12396G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.338G>A
ENST00000685515.1:c.*233G>A	ENSP00000509073.1:n.*233G>A
ENST00000685976.1:n.474G>A
ENST00000686135.1:n.1829G>A
ENST00000686870.1:c.369G>A	ENSP00000510121.1:p.Glu123=
ENST00000687370.1:n.3385G>A
ENST00000687880.1:c.*363G>A	ENSP00000508486.1:n.*363G>A
ENST00000688499.1:c.*233G>A	ENSP00000509581.1:n.*233G>A
ENST00000688688.1:c.318G>A	ENSP00000510426.1:p.Glu106=
ENST00000689173.1:c.*363G>A	ENSP00000509341.1:n.*363G>A
ENST00000690124.1:n.533G>A
ENST00000690898.1:n.558G>A
ENST00000691199.1:n.191-2974G>A
ENST00000691235.1:n.139-2974G>A
ENST00000691574.1:n.403G>A
ENST00000692234.1:c.*233G>A	ENSP00000508508.1:n.*233G>A
ENST00000692855.1:n.520G>A
ENST00000692875.1:c.318G>A	ENSP00000508785.1:p.Glu106=
ENST00000693173.1:c.*363G>A	ENSP00000510143.1:n.*363G>A
ENST00000693373.1:n.357G>A
ENST00000367762.2:c.369G>A	ENSP00000356736.2:p.Glu123=
ENST00000367763.8:c.369G>A MANE Select	ENSP00000356737.4:p.Glu123=
ENST00000498166.6:c.*363G>A	ENSP00000473336.2:n.*363G>A
ENST00000367762.1:c.444G>A	ENSP00000356736.1:p.Glu148=
ENST00000367763.7:c.444G>A	ENSP00000356737.3:p.Glu148=
ENST00000465717.1:n.455G>A
ENST00000498166.5:c.742G>A
ENST00000498600.2:n.456G>A
NM_001146039.1:c.444G>A	NP_001139511.1:p.Glu148=
NM_152281.2:c.444G>A	NP_689494.2:p.Glu148=
NR_027397.1:n.471G>A
XM_006711628.2:c.-101G>A	XP_006711691.1:n.-101G>A
XM_006711629.2:c.-97G>A	XP_006711692.1:n.-97G>A
XM_011510149.1:c.393G>A	XP_011508451.1:p.Glu131=
XM_011510150.1:c.-101G>A	XP_011508452.1:n.-101G>A
XM_011510151.1:c.-101G>A	XP_011508453.1:n.-101G>A
NM_001320252.1:c.-97G>A	NP_001307181.1:n.-97G>A
XM_006711628.4:c.-101G>A	XP_006711691.1:n.-101G>A
XM_011510149.2:c.393G>A	XP_011508451.1:p.Glu131=
XM_011510150.3:c.-101G>A	XP_011508452.1:n.-101G>A
XM_017002807.1:c.-101G>A	XP_016858296.1:n.-101G>A
XM_024450864.1:c.-97G>A	XP_024306632.1:n.-97G>A
NM_001146039.2:c.369G>A	NP_001139511.2:p.Glu123=
NM_001320252.2:c.-97G>A	NP_001307181.1:n.-97G>A
NM_152281.3:c.369G>A MANE Select	NP_689494.3:p.Glu123=
NR_027397.2:n.427G>A