Canonical Allele Identifier: CA343162490

Gene: GORAB

Linked Data

• gnomAD v4: 1-170539416-A-C
• MyVariant Identifiers: chr1:g.170508557A>C (hg19) ; chr1:g.170539416A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539416A>C , CM000663.2:g.170539416A>C	GRCh38
NC_000001.10:g.170508557A>C , CM000663.1:g.170508557A>C	GRCh37
NC_000001.9:g.168775181A>C	NCBI36
NG_012237.1:g.12295A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.237A>C
ENST00000685515.1:c.*132A>C	ENSP00000509073.1:n.*132A>C
ENST00000685976.1:n.373A>C
ENST00000686135.1:n.1728A>C
ENST00000686870.1:c.268A>C	ENSP00000510121.1:p.Thr90Pro
ENST00000687370.1:n.3284A>C
ENST00000687880.1:c.*262A>C	ENSP00000508486.1:n.*262A>C
ENST00000688499.1:c.*132A>C	ENSP00000509581.1:n.*132A>C
ENST00000688688.1:c.217A>C	ENSP00000510426.1:p.Thr73Pro
ENST00000689173.1:c.*262A>C	ENSP00000509341.1:n.*262A>C
ENST00000690124.1:n.432A>C
ENST00000690898.1:n.457A>C
ENST00000691199.1:n.191-3075A>C
ENST00000691235.1:n.139-3075A>C
ENST00000691574.1:n.302A>C
ENST00000692234.1:c.*132A>C	ENSP00000508508.1:n.*132A>C
ENST00000692855.1:n.419A>C
ENST00000692875.1:c.217A>C	ENSP00000508785.1:p.Thr73Pro
ENST00000693173.1:c.*262A>C	ENSP00000510143.1:n.*262A>C
ENST00000693373.1:n.256A>C
ENST00000367762.2:c.268A>C	ENSP00000356736.2:p.Thr90Pro
ENST00000367763.8:c.268A>C MANE Select	ENSP00000356737.4:p.Thr90Pro
ENST00000498166.6:c.*262A>C	ENSP00000473336.2:n.*262A>C
ENST00000367762.1:c.343A>C	ENSP00000356736.1:p.Thr115Pro
ENST00000367763.7:c.343A>C	ENSP00000356737.3:p.Thr115Pro
ENST00000465717.1:n.354A>C
ENST00000498166.5:c.641A>C
ENST00000498600.2:n.355A>C
NM_001146039.1:c.343A>C	NP_001139511.1:p.Thr115Pro
NM_152281.2:c.343A>C	NP_689494.2:p.Thr115Pro
NR_027397.1:n.370A>C
XM_006711628.2:c.-202A>C	XP_006711691.1:n.-202A>C
XM_006711629.2:c.-198A>C	XP_006711692.1:n.-198A>C
XM_011510149.1:c.292A>C	XP_011508451.1:p.Thr98Pro
XM_011510150.1:c.-202A>C	XP_011508452.1:n.-202A>C
XM_011510151.1:c.-202A>C	XP_011508453.1:n.-202A>C
NM_001320252.1:c.-198A>C	NP_001307181.1:n.-198A>C
XM_006711628.4:c.-202A>C	XP_006711691.1:n.-202A>C
XM_011510149.2:c.292A>C	XP_011508451.1:p.Thr98Pro
XM_011510150.3:c.-202A>C	XP_011508452.1:n.-202A>C
XM_017002807.1:c.-202A>C	XP_016858296.1:n.-202A>C
XM_024450864.1:c.-198A>C	XP_024306632.1:n.-198A>C
NM_001146039.2:c.268A>C	NP_001139511.2:p.Thr90Pro
NM_001320252.2:c.-198A>C	NP_001307181.1:n.-198A>C
NM_152281.3:c.268A>C MANE Select	NP_689494.3:p.Thr90Pro
NR_027397.2:n.326A>C