Canonical Allele Identifier: CA1239077

Gene: GORAB

Linked Data

• ClinVar Variation Id: 293652
• ClinVar RCV Id: RCV000370872 ; RCV002519408
• dbSNP Id: rs759352018
• ExAC: 1:170508563 A / G
• gnomAD v2: 1-170508563-A-G
• gnomAD v4: 1-170539422-A-G
• MyVariant Identifiers: chr1:g.170508563A>G (hg19) ; chr1:g.170508563_170508564delinsGC (hg19) ; chr1:g.170539422A>G (hg38) ; chr1:g.170539422_170539423delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539422A>G , CM000663.2:g.170539422A>G	GRCh38
NC_000001.10:g.170508563A>G , CM000663.1:g.170508563A>G	GRCh37
NC_000001.9:g.168775187A>G	NCBI36
NG_012237.1:g.12301A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.243A>G
ENST00000685515.1:c.*138A>G	ENSP00000509073.1:n.*138A>G
ENST00000685976.1:n.379A>G
ENST00000686135.1:n.1734A>G
ENST00000686870.1:c.274A>G	ENSP00000510121.1:p.Thr92Ala
ENST00000687370.1:n.3290A>G
ENST00000687880.1:c.*268A>G	ENSP00000508486.1:n.*268A>G
ENST00000688499.1:c.*138A>G	ENSP00000509581.1:n.*138A>G
ENST00000688688.1:c.223A>G	ENSP00000510426.1:p.Thr75Ala
ENST00000689173.1:c.*268A>G	ENSP00000509341.1:n.*268A>G
ENST00000690124.1:n.438A>G
ENST00000690898.1:n.463A>G
ENST00000691199.1:n.191-3069A>G
ENST00000691235.1:n.139-3069A>G
ENST00000691574.1:n.308A>G
ENST00000692234.1:c.*138A>G	ENSP00000508508.1:n.*138A>G
ENST00000692855.1:n.425A>G
ENST00000692875.1:c.223A>G	ENSP00000508785.1:p.Thr75Ala
ENST00000693173.1:c.*268A>G	ENSP00000510143.1:n.*268A>G
ENST00000693373.1:n.262A>G
ENST00000367762.2:c.274A>G	ENSP00000356736.2:p.Thr92Ala
ENST00000367763.8:c.274A>G MANE Select	ENSP00000356737.4:p.Thr92Ala
ENST00000498166.6:c.*268A>G	ENSP00000473336.2:n.*268A>G
ENST00000367762.1:c.349A>G	ENSP00000356736.1:p.Thr117Ala
ENST00000367763.7:c.349A>G	ENSP00000356737.3:p.Thr117Ala
ENST00000465717.1:n.360A>G
ENST00000498166.5:c.647A>G
ENST00000498600.2:n.361A>G
NM_001146039.1:c.349A>G	NP_001139511.1:p.Thr117Ala
NM_152281.2:c.349A>G	NP_689494.2:p.Thr117Ala
NR_027397.1:n.376A>G
XM_006711628.2:c.-196A>G	XP_006711691.1:n.-196A>G
XM_006711629.2:c.-192A>G	XP_006711692.1:n.-192A>G
XM_011510149.1:c.298A>G	XP_011508451.1:p.Thr100Ala
XM_011510150.1:c.-196A>G	XP_011508452.1:n.-196A>G
XM_011510151.1:c.-196A>G	XP_011508453.1:n.-196A>G
NM_001320252.1:c.-192A>G	NP_001307181.1:n.-192A>G
XM_006711628.4:c.-196A>G	XP_006711691.1:n.-196A>G
XM_011510149.2:c.298A>G	XP_011508451.1:p.Thr100Ala
XM_011510150.3:c.-196A>G	XP_011508452.1:n.-196A>G
XM_017002807.1:c.-196A>G	XP_016858296.1:n.-196A>G
XM_024450864.1:c.-192A>G	XP_024306632.1:n.-192A>G
NM_001146039.2:c.274A>G	NP_001139511.2:p.Thr92Ala
NM_001320252.2:c.-192A>G	NP_001307181.1:n.-192A>G
NM_152281.3:c.274A>G MANE Select	NP_689494.3:p.Thr92Ala
NR_027397.2:n.332A>G