Canonical Allele Identifier: CA343162508

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508567C>A (hg19) ; chr1:g.170539426C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539426C>A , CM000663.2:g.170539426C>A	GRCh38
NC_000001.10:g.170508567C>A , CM000663.1:g.170508567C>A	GRCh37
NC_000001.9:g.168775191C>A	NCBI36
NG_012237.1:g.12305C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.247C>A
ENST00000685515.1:c.*142C>A	ENSP00000509073.1:n.*142C>A
ENST00000685976.1:n.383C>A
ENST00000686135.1:n.1738C>A
ENST00000686870.1:c.278C>A	ENSP00000510121.1:p.Ser93Tyr
ENST00000687370.1:n.3294C>A
ENST00000687880.1:c.*272C>A	ENSP00000508486.1:n.*272C>A
ENST00000688499.1:c.*142C>A	ENSP00000509581.1:n.*142C>A
ENST00000688688.1:c.227C>A	ENSP00000510426.1:p.Ser76Tyr
ENST00000689173.1:c.*272C>A	ENSP00000509341.1:n.*272C>A
ENST00000690124.1:n.442C>A
ENST00000690898.1:n.467C>A
ENST00000691199.1:n.191-3065C>A
ENST00000691235.1:n.139-3065C>A
ENST00000691574.1:n.312C>A
ENST00000692234.1:c.*142C>A	ENSP00000508508.1:n.*142C>A
ENST00000692855.1:n.429C>A
ENST00000692875.1:c.227C>A	ENSP00000508785.1:p.Ser76Tyr
ENST00000693173.1:c.*272C>A	ENSP00000510143.1:n.*272C>A
ENST00000693373.1:n.266C>A
ENST00000367762.2:c.278C>A	ENSP00000356736.2:p.Ser93Tyr
ENST00000367763.8:c.278C>A MANE Select	ENSP00000356737.4:p.Ser93Tyr
ENST00000498166.6:c.*272C>A	ENSP00000473336.2:n.*272C>A
ENST00000367762.1:c.353C>A	ENSP00000356736.1:p.Ser118Tyr
ENST00000367763.7:c.353C>A	ENSP00000356737.3:p.Ser118Tyr
ENST00000465717.1:n.364C>A
ENST00000498166.5:c.651C>A
ENST00000498600.2:n.365C>A
NM_001146039.1:c.353C>A	NP_001139511.1:p.Ser118Tyr
NM_152281.2:c.353C>A	NP_689494.2:p.Ser118Tyr
NR_027397.1:n.380C>A
XM_006711628.2:c.-192C>A	XP_006711691.1:n.-192C>A
XM_006711629.2:c.-188C>A	XP_006711692.1:n.-188C>A
XM_011510149.1:c.302C>A	XP_011508451.1:p.Ser101Tyr
XM_011510150.1:c.-192C>A	XP_011508452.1:n.-192C>A
XM_011510151.1:c.-192C>A	XP_011508453.1:n.-192C>A
NM_001320252.1:c.-188C>A	NP_001307181.1:n.-188C>A
XM_006711628.4:c.-192C>A	XP_006711691.1:n.-192C>A
XM_011510149.2:c.302C>A	XP_011508451.1:p.Ser101Tyr
XM_011510150.3:c.-192C>A	XP_011508452.1:n.-192C>A
XM_017002807.1:c.-192C>A	XP_016858296.1:n.-192C>A
XM_024450864.1:c.-188C>A	XP_024306632.1:n.-188C>A
NM_001146039.2:c.278C>A	NP_001139511.2:p.Ser93Tyr
NM_001320252.2:c.-188C>A	NP_001307181.1:n.-188C>A
NM_152281.3:c.278C>A MANE Select	NP_689494.3:p.Ser93Tyr
NR_027397.2:n.336C>A