Canonical Allele Identifier: CA32481683

Gene: GORAB

Linked Data

• dbSNP Id: rs900122680
• MyVariant Identifiers: chr1:g.170522849A>T (hg19) ; chr1:g.170553708A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170553708A>T , CM000663.2:g.170553708A>T	GRCh38
NC_000001.10:g.170522849A>T , CM000663.1:g.170522849A>T	GRCh37
NC_000001.9:g.168789473A>T	NCBI36
NG_012237.1:g.26587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689173.1:c.*2354A>T	ENSP00000509341.1:n.*2354A>T
ENST00000367763.8:c.*1246A>T MANE Select	ENSP00000356737.4:n.*1246A>T
NM_152281.2:c.*1246A>T	NP_689494.2:n.*1246A>T
NR_027397.1:n.2462A>T
XM_006711628.2:c.*1246A>T	XP_006711691.1:n.*1246A>T
XM_006711629.2:c.*1246A>T	XP_006711692.1:n.*1246A>T
XM_011510149.1:c.*1246A>T	XP_011508451.1:n.*1246A>T
XM_011510150.1:c.*1246A>T	XP_011508452.1:n.*1246A>T
XM_011510151.1:c.*1246A>T	XP_011508453.1:n.*1246A>T
NM_001320252.1:c.*1246A>T	NP_001307181.1:n.*1246A>T
XM_006711628.4:c.*1246A>T	XP_006711691.1:n.*1246A>T
XM_011510149.2:c.*1246A>T	XP_011508451.1:n.*1246A>T
XM_011510150.3:c.*1246A>T	XP_011508452.1:n.*1246A>T
XM_017002807.1:c.*1246A>T	XP_016858296.1:n.*1246A>T
XM_024450864.1:c.*1246A>T	XP_024306632.1:n.*1246A>T
NM_001320252.2:c.*1246A>T	NP_001307181.1:n.*1246A>T
NM_152281.3:c.*1246A>T MANE Select	NP_689494.3:n.*1246A>T
NR_027397.2:n.2418A>T