Canonical Allele Identifier: CA343162492
Gene: GORAB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000684929.1:n.237A>G
ENST00000685515.1:c.*132A>G ENSP00000509073.1:n.*132A>G
ENST00000685976.1:n.373A>G
ENST00000686135.1:n.1728A>G
ENST00000686870.1:c.268A>G ENSP00000510121.1:p.Thr90Ala
ENST00000687370.1:n.3284A>G
ENST00000687880.1:c.*262A>G ENSP00000508486.1:n.*262A>G
ENST00000688499.1:c.*132A>G ENSP00000509581.1:n.*132A>G
ENST00000688688.1:c.217A>G ENSP00000510426.1:p.Thr73Ala
ENST00000689173.1:c.*262A>G ENSP00000509341.1:n.*262A>G
ENST00000690124.1:n.432A>G
ENST00000690898.1:n.457A>G
ENST00000691199.1:n.191-3075A>G
ENST00000691235.1:n.139-3075A>G
ENST00000691574.1:n.302A>G
ENST00000692234.1:c.*132A>G ENSP00000508508.1:n.*132A>G
ENST00000692855.1:n.419A>G
ENST00000692875.1:c.217A>G ENSP00000508785.1:p.Thr73Ala
ENST00000693173.1:c.*262A>G ENSP00000510143.1:n.*262A>G
ENST00000693373.1:n.256A>G
ENST00000367762.2:c.268A>G ENSP00000356736.2:p.Thr90Ala
ENST00000367763.8:c.268A>G MANE Select ENSP00000356737.4:p.Thr90Ala
ENST00000498166.6:c.*262A>G ENSP00000473336.2:n.*262A>G
ENST00000367762.1:c.343A>G ENSP00000356736.1:p.Thr115Ala
ENST00000367763.7:c.343A>G ENSP00000356737.3:p.Thr115Ala
ENST00000465717.1:n.354A>G
ENST00000498166.5:c.641A>G
ENST00000498600.2:n.355A>G
NM_001146039.1:c.343A>G NP_001139511.1:p.Thr115Ala
NM_152281.2:c.343A>G NP_689494.2:p.Thr115Ala
NR_027397.1:n.370A>G
XM_006711628.2:c.-202A>G XP_006711691.1:n.-202A>G
XM_006711629.2:c.-198A>G XP_006711692.1:n.-198A>G
XM_011510149.1:c.292A>G XP_011508451.1:p.Thr98Ala
XM_011510150.1:c.-202A>G XP_011508452.1:n.-202A>G
XM_011510151.1:c.-202A>G XP_011508453.1:n.-202A>G
NM_001320252.1:c.-198A>G NP_001307181.1:n.-198A>G
XM_006711628.4:c.-202A>G XP_006711691.1:n.-202A>G
XM_011510149.2:c.292A>G XP_011508451.1:p.Thr98Ala
XM_011510150.3:c.-202A>G XP_011508452.1:n.-202A>G
XM_017002807.1:c.-202A>G XP_016858296.1:n.-202A>G
XM_024450864.1:c.-198A>G XP_024306632.1:n.-198A>G
NM_001146039.2:c.268A>G NP_001139511.2:p.Thr90Ala
NM_001320252.2:c.-198A>G NP_001307181.1:n.-198A>G
NM_152281.3:c.268A>G MANE Select NP_689494.3:p.Thr90Ala
NR_027397.2:n.326A>G