Canonical Allele Identifier: CA1239099

Gene: GORAB

Linked Data

• dbSNP Id: rs774304692
• ExAC: 1:170508657 A / G
• gnomAD v2: 1-170508657-A-G
• gnomAD v3: 1-170539516-A-G
• gnomAD v4: 1-170539516-A-G
• MyVariant Identifiers: chr1:g.170508657A>G (hg19) ; chr1:g.170539516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539516A>G , CM000663.2:g.170539516A>G	GRCh38
NC_000001.10:g.170508657A>G , CM000663.1:g.170508657A>G	GRCh37
NC_000001.9:g.168775281A>G	NCBI36
NG_012237.1:g.12395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684929.1:n.337A>G
ENST00000685515.1:c.*232A>G	ENSP00000509073.1:n.*232A>G
ENST00000685976.1:n.473A>G
ENST00000686135.1:n.1828A>G
ENST00000686870.1:c.368A>G	ENSP00000510121.1:p.Glu123Gly
ENST00000687370.1:n.3384A>G
ENST00000687880.1:c.*362A>G	ENSP00000508486.1:n.*362A>G
ENST00000688499.1:c.*232A>G	ENSP00000509581.1:n.*232A>G
ENST00000688688.1:c.317A>G	ENSP00000510426.1:p.Glu106Gly
ENST00000689173.1:c.*362A>G	ENSP00000509341.1:n.*362A>G
ENST00000690124.1:n.532A>G
ENST00000690898.1:n.557A>G
ENST00000691199.1:n.191-2975A>G
ENST00000691235.1:n.139-2975A>G
ENST00000691574.1:n.402A>G
ENST00000692234.1:c.*232A>G	ENSP00000508508.1:n.*232A>G
ENST00000692855.1:n.519A>G
ENST00000692875.1:c.317A>G	ENSP00000508785.1:p.Glu106Gly
ENST00000693173.1:c.*362A>G	ENSP00000510143.1:n.*362A>G
ENST00000693373.1:n.356A>G
ENST00000367762.2:c.368A>G	ENSP00000356736.2:p.Glu123Gly
ENST00000367763.8:c.368A>G MANE Select	ENSP00000356737.4:p.Glu123Gly
ENST00000498166.6:c.*362A>G	ENSP00000473336.2:n.*362A>G
ENST00000367762.1:c.443A>G	ENSP00000356736.1:p.Glu148Gly
ENST00000367763.7:c.443A>G	ENSP00000356737.3:p.Glu148Gly
ENST00000465717.1:n.454A>G
ENST00000498166.5:c.741A>G
ENST00000498600.2:n.455A>G
NM_001146039.1:c.443A>G	NP_001139511.1:p.Glu148Gly
NM_152281.2:c.443A>G	NP_689494.2:p.Glu148Gly
NR_027397.1:n.470A>G
XM_006711628.2:c.-102A>G	XP_006711691.1:n.-102A>G
XM_006711629.2:c.-98A>G	XP_006711692.1:n.-98A>G
XM_011510149.1:c.392A>G	XP_011508451.1:p.Glu131Gly
XM_011510150.1:c.-102A>G	XP_011508452.1:n.-102A>G
XM_011510151.1:c.-102A>G	XP_011508453.1:n.-102A>G
NM_001320252.1:c.-98A>G	NP_001307181.1:n.-98A>G
XM_006711628.4:c.-102A>G	XP_006711691.1:n.-102A>G
XM_011510149.2:c.392A>G	XP_011508451.1:p.Glu131Gly
XM_011510150.3:c.-102A>G	XP_011508452.1:n.-102A>G
XM_017002807.1:c.-102A>G	XP_016858296.1:n.-102A>G
XM_024450864.1:c.-98A>G	XP_024306632.1:n.-98A>G
NM_001146039.2:c.368A>G	NP_001139511.2:p.Glu123Gly
NM_001320252.2:c.-98A>G	NP_001307181.1:n.-98A>G
NM_152281.3:c.368A>G MANE Select	NP_689494.3:p.Glu123Gly
NR_027397.2:n.426A>G