Canonical Allele Identifier: CA913186023

Gene: GORAB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170544850G>C , CM000663.2:g.170544850G>C	GRCh38
NC_000001.10:g.170513991G>C , CM000663.1:g.170513991G>C	GRCh37
NC_000001.9:g.168780615G>C	NCBI36
NG_012237.1:g.17729G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152281.3:c.662+5G>C MANE Select	NP_689494.3:n.662+5G>C
ENST00000367763.8:c.662+5G>C MANE Select	ENSP00000356737.4:n.662+5G>C
NM_001146039.1:c.*1G>C	NP_001139511.1:n.*1G>C
NM_001146039.2:c.*1G>C	NP_001139511.2:n.*1G>C
NM_001320252.1:c.197+5G>C	NP_001307181.1:n.197+5G>C
NM_001320252.2:c.197+5G>C	NP_001307181.1:n.197+5G>C
NM_152281.2:c.737+5G>C	NP_689494.2:n.737+5G>C
NR_027397.1:n.768+5G>C
NR_027397.2:n.724+5G>C
ENST00000367762.1:c.*1G>C	ENSP00000356736.1:n.*1G>C
ENST00000367762.2:c.*1G>C	ENSP00000356736.2:n.*1G>C
ENST00000367763.7:c.737+5G>C	ENSP00000356737.3:n.737+5G>C
ENST00000475113.1:n.206+5G>C
ENST00000498166.5:c.1035+5G>C
ENST00000498166.6:c.*656+5G>C	ENSP00000473336.2:n.*656+5G>C
ENST00000498600.2:n.753+5G>C
ENST00000685515.1:c.*526+5G>C	ENSP00000509073.1:n.*526+5G>C
ENST00000686021.1:n.777+5G>C
ENST00000686870.1:c.*180+5G>C	ENSP00000510121.1:n.*180+5G>C
ENST00000687370.1:n.3678+5G>C
ENST00000687880.1:c.*660+5G>C	ENSP00000508486.1:n.*660+5G>C
ENST00000688499.1:c.*530+5G>C	ENSP00000509581.1:n.*530+5G>C
ENST00000688688.1:c.611+5G>C	ENSP00000510426.1:n.611+5G>C
ENST00000689173.1:c.*660+5G>C	ENSP00000509341.1:n.*660+5G>C
ENST00000690124.1:n.826+5G>C
ENST00000690898.1:n.855+5G>C
ENST00000691051.1:n.1401+5G>C
ENST00000691199.1:n.433+5G>C
ENST00000691235.1:n.381+5G>C
ENST00000692234.1:c.*531G>C	ENSP00000508508.1:n.*531G>C
ENST00000692855.1:n.817+5G>C
ENST00000692875.1:c.*180+5G>C	ENSP00000508785.1:n.*180+5G>C
ENST00000693173.1:c.*665G>C	ENSP00000510143.1:n.*665G>C
ENST00000693373.1:n.654+5G>C
XM_006711628.2:c.197+5G>C	XP_006711691.1:n.197+5G>C
XM_006711628.4:c.197+5G>C	XP_006711691.1:n.197+5G>C
XM_006711629.2:c.197+5G>C	XP_006711692.1:n.197+5G>C
XM_011510149.1:c.686+5G>C	XP_011508451.1:n.686+5G>C
XM_011510149.2:c.686+5G>C	XP_011508451.1:n.686+5G>C
XM_011510150.1:c.197+5G>C	XP_011508452.1:n.197+5G>C
XM_011510150.3:c.197+5G>C	XP_011508452.1:n.197+5G>C
XM_011510151.1:c.197+5G>C	XP_011508453.1:n.197+5G>C
XM_017002807.1:c.197+5G>C	XP_016858296.1:n.197+5G>C
XM_024450864.1:c.197+5G>C	XP_024306632.1:n.197+5G>C