Canonical Allele Identifier: CA32469890

Gene: GORAB

Linked Data

• ClinVar Variation Id: 2999811
• ClinVar RCV Id: RCV003854922
• dbSNP Id: rs963729755
• gnomAD v4: 1-170539523-A-G
• MyVariant Identifiers: chr1:g.170508664A>G (hg19) ; chr1:g.170539523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539523A>G , CM000663.2:g.170539523A>G	GRCh38
NC_000001.10:g.170508664A>G , CM000663.1:g.170508664A>G	GRCh37
NC_000001.9:g.168775288A>G	NCBI36
NG_012237.1:g.12402A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.344A>G
ENST00000685515.1:c.*239A>G	ENSP00000509073.1:n.*239A>G
ENST00000685976.1:n.480A>G
ENST00000686135.1:n.1835A>G
ENST00000686870.1:c.375A>G	ENSP00000510121.1:p.Leu125=
ENST00000687370.1:n.3391A>G
ENST00000687880.1:c.*369A>G	ENSP00000508486.1:n.*369A>G
ENST00000688499.1:c.*239A>G	ENSP00000509581.1:n.*239A>G
ENST00000688688.1:c.324A>G	ENSP00000510426.1:p.Leu108=
ENST00000689173.1:c.*369A>G	ENSP00000509341.1:n.*369A>G
ENST00000690124.1:n.539A>G
ENST00000690898.1:n.564A>G
ENST00000691199.1:n.191-2968A>G
ENST00000691235.1:n.139-2968A>G
ENST00000691574.1:n.409A>G
ENST00000692234.1:c.*239A>G	ENSP00000508508.1:n.*239A>G
ENST00000692855.1:n.526A>G
ENST00000692875.1:c.324A>G	ENSP00000508785.1:p.Leu108=
ENST00000693173.1:c.*369A>G	ENSP00000510143.1:n.*369A>G
ENST00000693373.1:n.363A>G
ENST00000367762.2:c.375A>G	ENSP00000356736.2:p.Leu125=
ENST00000367763.8:c.375A>G MANE Select	ENSP00000356737.4:p.Leu125=
ENST00000498166.6:c.*369A>G	ENSP00000473336.2:n.*369A>G
ENST00000367762.1:c.450A>G	ENSP00000356736.1:p.Leu150=
ENST00000367763.7:c.450A>G	ENSP00000356737.3:p.Leu150=
ENST00000465717.1:n.461A>G
ENST00000498166.5:c.748A>G
ENST00000498600.2:n.462A>G
NM_001146039.1:c.450A>G	NP_001139511.1:p.Leu150=
NM_152281.2:c.450A>G	NP_689494.2:p.Leu150=
NR_027397.1:n.477A>G
XM_006711628.2:c.-95A>G	XP_006711691.1:n.-95A>G
XM_006711629.2:c.-91A>G	XP_006711692.1:n.-91A>G
XM_011510149.1:c.399A>G	XP_011508451.1:p.Leu133=
XM_011510150.1:c.-95A>G	XP_011508452.1:n.-95A>G
XM_011510151.1:c.-95A>G	XP_011508453.1:n.-95A>G
NM_001320252.1:c.-91A>G	NP_001307181.1:n.-91A>G
XM_006711628.4:c.-95A>G	XP_006711691.1:n.-95A>G
XM_011510149.2:c.399A>G	XP_011508451.1:p.Leu133=
XM_011510150.3:c.-95A>G	XP_011508452.1:n.-95A>G
XM_017002807.1:c.-95A>G	XP_016858296.1:n.-95A>G
XM_024450864.1:c.-91A>G	XP_024306632.1:n.-91A>G
NM_001146039.2:c.375A>G	NP_001139511.2:p.Leu125=
NM_001320252.2:c.-91A>G	NP_001307181.1:n.-91A>G
NM_152281.3:c.375A>G MANE Select	NP_689494.3:p.Leu125=
NR_027397.2:n.433A>G