Canonical Allele Identifier: CA1239080

Gene: GORAB

Linked Data

• ClinVar Variation Id: 1579362
• ClinVar RCV Id: RCV002083912
• dbSNP Id: rs373666279
• ExAC: 1:170508568 C / G
• gnomAD v2: 1-170508568-C-G
• gnomAD v3: 1-170539427-C-G
• gnomAD v4: 1-170539427-C-G
• MyVariant Identifiers: chr1:g.170508568C>G (hg19) ; chr1:g.170539427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539427C>G , CM000663.2:g.170539427C>G	GRCh38
NC_000001.10:g.170508568C>G , CM000663.1:g.170508568C>G	GRCh37
NC_000001.9:g.168775192C>G	NCBI36
NG_012237.1:g.12306C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.248C>G
ENST00000685515.1:c.*143C>G	ENSP00000509073.1:n.*143C>G
ENST00000685976.1:n.384C>G
ENST00000686135.1:n.1739C>G
ENST00000686870.1:c.279C>G	ENSP00000510121.1:p.Ser93=
ENST00000687370.1:n.3295C>G
ENST00000687880.1:c.*273C>G	ENSP00000508486.1:n.*273C>G
ENST00000688499.1:c.*143C>G	ENSP00000509581.1:n.*143C>G
ENST00000688688.1:c.228C>G	ENSP00000510426.1:p.Ser76=
ENST00000689173.1:c.*273C>G	ENSP00000509341.1:n.*273C>G
ENST00000690124.1:n.443C>G
ENST00000690898.1:n.468C>G
ENST00000691199.1:n.191-3064C>G
ENST00000691235.1:n.139-3064C>G
ENST00000691574.1:n.313C>G
ENST00000692234.1:c.*143C>G	ENSP00000508508.1:n.*143C>G
ENST00000692855.1:n.430C>G
ENST00000692875.1:c.228C>G	ENSP00000508785.1:p.Ser76=
ENST00000693173.1:c.*273C>G	ENSP00000510143.1:n.*273C>G
ENST00000693373.1:n.267C>G
ENST00000367762.2:c.279C>G	ENSP00000356736.2:p.Ser93=
ENST00000367763.8:c.279C>G MANE Select	ENSP00000356737.4:p.Ser93=
ENST00000498166.6:c.*273C>G	ENSP00000473336.2:n.*273C>G
ENST00000367762.1:c.354C>G	ENSP00000356736.1:p.Ser118=
ENST00000367763.7:c.354C>G	ENSP00000356737.3:p.Ser118=
ENST00000465717.1:n.365C>G
ENST00000498166.5:c.652C>G
ENST00000498600.2:n.366C>G
NM_001146039.1:c.354C>G	NP_001139511.1:p.Ser118=
NM_152281.2:c.354C>G	NP_689494.2:p.Ser118=
NR_027397.1:n.381C>G
XM_006711628.2:c.-191C>G	XP_006711691.1:n.-191C>G
XM_006711629.2:c.-187C>G	XP_006711692.1:n.-187C>G
XM_011510149.1:c.303C>G	XP_011508451.1:p.Ser101=
XM_011510150.1:c.-191C>G	XP_011508452.1:n.-191C>G
XM_011510151.1:c.-191C>G	XP_011508453.1:n.-191C>G
NM_001320252.1:c.-187C>G	NP_001307181.1:n.-187C>G
XM_006711628.4:c.-191C>G	XP_006711691.1:n.-191C>G
XM_011510149.2:c.303C>G	XP_011508451.1:p.Ser101=
XM_011510150.3:c.-191C>G	XP_011508452.1:n.-191C>G
XM_017002807.1:c.-191C>G	XP_016858296.1:n.-191C>G
XM_024450864.1:c.-187C>G	XP_024306632.1:n.-187C>G
NM_001146039.2:c.279C>G	NP_001139511.2:p.Ser93=
NM_001320252.2:c.-187C>G	NP_001307181.1:n.-187C>G
NM_152281.3:c.279C>G MANE Select	NP_689494.3:p.Ser93=
NR_027397.2:n.337C>G