Canonical Allele Identifier: CA10608267

Gene: GORAB

Linked Data

• ClinVar Variation Id: 293682
• ClinVar RCV Id: RCV000350750
• dbSNP Id: rs550890680
• gnomAD v2: 1-170522763-G-A
• gnomAD v3: 1-170553622-G-A
• gnomAD v4: 1-170553622-G-A
• MyVariant Identifiers: chr1:g.170522763G>A (hg19) ; chr1:g.170553622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170553622G>A , CM000663.2:g.170553622G>A	GRCh38
NC_000001.10:g.170522763G>A , CM000663.1:g.170522763G>A	GRCh37
NC_000001.9:g.168789387G>A	NCBI36
NG_012237.1:g.26501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685515.1:c.*2134G>A	ENSP00000509073.1:n.*2134G>A
ENST00000689173.1:c.*2268G>A	ENSP00000509341.1:n.*2268G>A
ENST00000367763.8:c.*1160G>A MANE Select	ENSP00000356737.4:n.*1160G>A
NM_152281.2:c.*1160G>A	NP_689494.2:n.*1160G>A
NR_027397.1:n.2376G>A
XM_006711628.2:c.*1160G>A	XP_006711691.1:n.*1160G>A
XM_006711629.2:c.*1160G>A	XP_006711692.1:n.*1160G>A
XM_011510149.1:c.*1160G>A	XP_011508451.1:n.*1160G>A
XM_011510150.1:c.*1160G>A	XP_011508452.1:n.*1160G>A
XM_011510151.1:c.*1160G>A	XP_011508453.1:n.*1160G>A
NM_001320252.1:c.*1160G>A	NP_001307181.1:n.*1160G>A
XM_006711628.4:c.*1160G>A	XP_006711691.1:n.*1160G>A
XM_011510149.2:c.*1160G>A	XP_011508451.1:n.*1160G>A
XM_011510150.3:c.*1160G>A	XP_011508452.1:n.*1160G>A
XM_017002807.1:c.*1160G>A	XP_016858296.1:n.*1160G>A
XM_024450864.1:c.*1160G>A	XP_024306632.1:n.*1160G>A
NM_001320252.2:c.*1160G>A	NP_001307181.1:n.*1160G>A
NM_152281.3:c.*1160G>A MANE Select	NP_689494.3:n.*1160G>A
NR_027397.2:n.2332G>A