Canonical Allele Identifier: CA10608768

Gene: GORAB

Linked Data

• ClinVar Variation Id: 293676
• ClinVar RCV Id: RCV000321029
• dbSNP Id: rs544243091
• gnomAD v2: 1-170522583-A-T
• gnomAD v3: 1-170553442-A-T
• gnomAD v4: 1-170553442-A-T
• MyVariant Identifiers: chr1:g.170522583A>T (hg19) ; chr1:g.170553442A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170553442A>T , CM000663.2:g.170553442A>T	GRCh38
NC_000001.10:g.170522583A>T , CM000663.1:g.170522583A>T	GRCh37
NC_000001.9:g.168789207A>T	NCBI36
NG_012237.1:g.26321A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685515.1:c.*1954A>T	ENSP00000509073.1:n.*1954A>T
ENST00000688499.1:c.*1958A>T	ENSP00000509581.1:n.*1958A>T
ENST00000689173.1:c.*2088A>T	ENSP00000509341.1:n.*2088A>T
ENST00000692855.1:n.2245A>T
ENST00000367763.8:c.*980A>T MANE Select	ENSP00000356737.4:n.*980A>T
ENST00000498166.6:c.*2084A>T	ENSP00000473336.2:n.*2084A>T
ENST00000367763.7:c.*980A>T	ENSP00000356737.3:n.*980A>T
ENST00000498166.5:c.2463A>T
ENST00000498600.2:n.2181A>T
NM_152281.2:c.*980A>T	NP_689494.2:n.*980A>T
NR_027397.1:n.2196A>T
XM_006711628.2:c.*980A>T	XP_006711691.1:n.*980A>T
XM_006711629.2:c.*980A>T	XP_006711692.1:n.*980A>T
XM_011510149.1:c.*980A>T	XP_011508451.1:n.*980A>T
XM_011510150.1:c.*980A>T	XP_011508452.1:n.*980A>T
XM_011510151.1:c.*980A>T	XP_011508453.1:n.*980A>T
NM_001320252.1:c.*980A>T	NP_001307181.1:n.*980A>T
XM_006711628.4:c.*980A>T	XP_006711691.1:n.*980A>T
XM_011510149.2:c.*980A>T	XP_011508451.1:n.*980A>T
XM_011510150.3:c.*980A>T	XP_011508452.1:n.*980A>T
XM_017002807.1:c.*980A>T	XP_016858296.1:n.*980A>T
XM_024450864.1:c.*980A>T	XP_024306632.1:n.*980A>T
NM_001320252.2:c.*980A>T	NP_001307181.1:n.*980A>T
NM_152281.3:c.*980A>T MANE Select	NP_689494.3:n.*980A>T
NR_027397.2:n.2152A>T