Canonical Allele Identifier: CA1239390

Gene: GORAB

Linked Data

• ClinVar Variation Id: 293683
• ClinVar RCV Id: RCV000396138
• dbSNP Id: rs77280970
• ExAC: 1:170522820 T / C
• gnomAD v2: 1-170522820-T-C
• gnomAD v3: 1-170553679-T-C
• gnomAD v4: 1-170553679-T-C
• MyVariant Identifiers: chr1:g.170522820T>C (hg19) ; chr1:g.170553679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170553679T>C , CM000663.2:g.170553679T>C	GRCh38
NC_000001.10:g.170522820T>C , CM000663.1:g.170522820T>C	GRCh37
NC_000001.9:g.168789444T>C	NCBI36
NG_012237.1:g.26558T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000689173.1:c.*2325T>C	ENSP00000509341.1:n.*2325T>C
ENST00000367763.8:c.*1217T>C MANE Select	ENSP00000356737.4:n.*1217T>C
NM_152281.2:c.*1217T>C	NP_689494.2:n.*1217T>C
NR_027397.1:n.2433T>C
XM_006711628.2:c.*1217T>C	XP_006711691.1:n.*1217T>C
XM_006711629.2:c.*1217T>C	XP_006711692.1:n.*1217T>C
XM_011510149.1:c.*1217T>C	XP_011508451.1:n.*1217T>C
XM_011510150.1:c.*1217T>C	XP_011508452.1:n.*1217T>C
XM_011510151.1:c.*1217T>C	XP_011508453.1:n.*1217T>C
NM_001320252.1:c.*1217T>C	NP_001307181.1:n.*1217T>C
XM_006711628.4:c.*1217T>C	XP_006711691.1:n.*1217T>C
XM_011510149.2:c.*1217T>C	XP_011508451.1:n.*1217T>C
XM_011510150.3:c.*1217T>C	XP_011508452.1:n.*1217T>C
XM_017002807.1:c.*1217T>C	XP_016858296.1:n.*1217T>C
XM_024450864.1:c.*1217T>C	XP_024306632.1:n.*1217T>C
NM_001320252.2:c.*1217T>C	NP_001307181.1:n.*1217T>C
NM_152281.3:c.*1217T>C MANE Select	NP_689494.3:n.*1217T>C
NR_027397.2:n.2389T>C