Canonical Allele Identifier: CA1239216

Gene: GORAB

Linked Data

• dbSNP Id: rs201410218
• ExAC: 1:170521144 A / G
• gnomAD v2: 1-170521144-A-G
• gnomAD v3: 1-170552003-A-G
• gnomAD v4: 1-170552003-A-G
• MyVariant Identifiers: chr1:g.170521144A>G (hg19) ; chr1:g.170552003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170552003A>G , CM000663.2:g.170552003A>G	GRCh38
NC_000001.10:g.170521144A>G , CM000663.1:g.170521144A>G	GRCh37
NC_000001.9:g.168787768A>G	NCBI36
NG_012237.1:g.24882A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685515.1:c.*527-12A>G	ENSP00000509073.1:n.*527-12A>G
ENST00000686021.1:n.778-12A>G
ENST00000686870.1:c.*181-12A>G	ENSP00000510121.1:n.*181-12A>G
ENST00000687370.1:n.3679-12A>G
ENST00000687880.1:c.*661-12A>G	ENSP00000508486.1:n.*661-12A>G
ENST00000688499.1:c.*531-12A>G	ENSP00000509581.1:n.*531-12A>G
ENST00000688688.1:c.612-12A>G	ENSP00000510426.1:n.612-12A>G
ENST00000689173.1:c.*661-12A>G	ENSP00000509341.1:n.*661-12A>G
ENST00000690124.1:n.827-12A>G
ENST00000690898.1:n.856-12A>G
ENST00000691051.1:n.1402-12A>G
ENST00000691199.1:n.434-12A>G
ENST00000691235.1:n.382-12A>G
ENST00000692855.1:n.818-12A>G
ENST00000692875.1:c.*181-12A>G	ENSP00000508785.1:n.*181-12A>G
ENST00000693373.1:n.655-12A>G
ENST00000367763.8:c.663-12A>G MANE Select	ENSP00000356737.4:n.663-12A>G
ENST00000498166.6:c.*657-12A>G	ENSP00000473336.2:n.*657-12A>G
ENST00000367763.7:c.738-12A>G	ENSP00000356737.3:n.738-12A>G
ENST00000475113.1:n.207-12A>G
ENST00000498166.5:c.1036-12A>G
ENST00000498600.2:n.754-12A>G
NM_152281.2:c.738-12A>G	NP_689494.2:n.738-12A>G
NR_027397.1:n.769-12A>G
XM_006711628.2:c.198-12A>G	XP_006711691.1:n.198-12A>G
XM_006711629.2:c.198-12A>G	XP_006711692.1:n.198-12A>G
XM_011510149.1:c.687-12A>G	XP_011508451.1:n.687-12A>G
XM_011510150.1:c.198-12A>G	XP_011508452.1:n.198-12A>G
XM_011510151.1:c.198-12A>G	XP_011508453.1:n.198-12A>G
NM_001320252.1:c.198-12A>G	NP_001307181.1:n.198-12A>G
XM_006711628.4:c.198-12A>G	XP_006711691.1:n.198-12A>G
XM_011510149.2:c.687-12A>G	XP_011508451.1:n.687-12A>G
XM_011510150.3:c.198-12A>G	XP_011508452.1:n.198-12A>G
XM_017002807.1:c.198-12A>G	XP_016858296.1:n.198-12A>G
XM_024450864.1:c.198-12A>G	XP_024306632.1:n.198-12A>G
NM_001320252.2:c.198-12A>G	NP_001307181.1:n.198-12A>G
NM_152281.3:c.663-12A>G MANE Select	NP_689494.3:n.663-12A>G
NR_027397.2:n.725-12A>G