Canonical Allele Identifier: CA2649071029

Gene: GORAB

Linked Data

• gnomAD v4: 1-170553779-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170553779A>G , CM000663.2:g.170553779A>G	GRCh38
NC_000001.10:g.170522920A>G , CM000663.1:g.170522920A>G	GRCh37
NC_000001.9:g.168789544A>G	NCBI36
NG_012237.1:g.26658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689173.1:c.*2425A>G	ENSP00000509341.1:n.*2425A>G
ENST00000367763.8:c.*1317A>G MANE Select	ENSP00000356737.4:n.*1317A>G
NM_152281.2:c.*1317A>G	NP_689494.2:n.*1317A>G
NR_027397.1:n.2533A>G
XM_006711628.2:c.*1317A>G	XP_006711691.1:n.*1317A>G
XM_006711629.2:c.*1317A>G	XP_006711692.1:n.*1317A>G
XM_011510149.1:c.*1317A>G	XP_011508451.1:n.*1317A>G
XM_011510150.1:c.*1317A>G	XP_011508452.1:n.*1317A>G
XM_011510151.1:c.*1317A>G	XP_011508453.1:n.*1317A>G
NM_001320252.1:c.*1317A>G	NP_001307181.1:n.*1317A>G
XM_006711628.4:c.*1317A>G	XP_006711691.1:n.*1317A>G
XM_011510149.2:c.*1317A>G	XP_011508451.1:n.*1317A>G
XM_011510150.3:c.*1317A>G	XP_011508452.1:n.*1317A>G
XM_017002807.1:c.*1317A>G	XP_016858296.1:n.*1317A>G
XM_024450864.1:c.*1317A>G	XP_024306632.1:n.*1317A>G
NM_001320252.2:c.*1317A>G	NP_001307181.1:n.*1317A>G
NM_152281.3:c.*1317A>G MANE Select	NP_689494.3:n.*1317A>G
NR_027397.2:n.2489A>G