Canonical Allele Identifier: CA32472403

Gene: GORAB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170542785T>C , CM000663.2:g.170542785T>C	GRCh38
NC_000001.10:g.170511926T>C , CM000663.1:g.170511926T>C	GRCh37
NC_000001.9:g.168778550T>C	NCBI36
NG_012237.1:g.15664T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152281.3:c.521+193T>C MANE Select	NP_689494.3:n.521+193T>C
ENST00000367763.8:c.521+193T>C MANE Select	ENSP00000356737.4:n.521+193T>C
NM_001146039.1:c.596+193T>C	NP_001139511.1:n.596+193T>C
NM_001146039.2:c.521+193T>C	NP_001139511.2:n.521+193T>C
NM_001320252.1:c.56+193T>C	NP_001307181.1:n.56+193T>C
NM_001320252.2:c.56+193T>C	NP_001307181.1:n.56+193T>C
NM_152281.2:c.596+193T>C	NP_689494.2:n.596+193T>C
NR_027397.1:n.627+193T>C
NR_027397.2:n.583+193T>C
ENST00000367762.1:c.596+193T>C	ENSP00000356736.1:n.596+193T>C
ENST00000367762.2:c.521+193T>C	ENSP00000356736.2:n.521+193T>C
ENST00000367763.7:c.596+193T>C	ENSP00000356737.3:n.596+193T>C
ENST00000498166.5:c.894+193T>C
ENST00000498166.6:c.*515+193T>C	ENSP00000473336.2:n.*515+193T>C
ENST00000498600.2:n.612+193T>C
ENST00000685515.1:c.*385+193T>C	ENSP00000509073.1:n.*385+193T>C
ENST00000686870.1:c.*39+193T>C	ENSP00000510121.1:n.*39+193T>C
ENST00000687370.1:n.3537+193T>C
ENST00000687880.1:c.*519+193T>C	ENSP00000508486.1:n.*519+193T>C
ENST00000688499.1:c.*389+193T>C	ENSP00000509581.1:n.*389+193T>C
ENST00000688688.1:c.470+193T>C	ENSP00000510426.1:n.470+193T>C
ENST00000689173.1:c.*519+193T>C	ENSP00000509341.1:n.*519+193T>C
ENST00000690124.1:n.685+193T>C
ENST00000690898.1:n.714+193T>C
ENST00000691051.1:n.1260+193T>C
ENST00000691199.1:n.292+193T>C
ENST00000691235.1:n.240+193T>C
ENST00000692234.1:c.*385+193T>C	ENSP00000508508.1:n.*385+193T>C
ENST00000692855.1:n.676+193T>C
ENST00000692875.1:c.*39+193T>C	ENSP00000508785.1:n.*39+193T>C
ENST00000693173.1:c.*519+193T>C	ENSP00000510143.1:n.*519+193T>C
ENST00000693373.1:n.513+193T>C
XM_006711628.2:c.56+193T>C	XP_006711691.1:n.56+193T>C
XM_006711628.4:c.56+193T>C	XP_006711691.1:n.56+193T>C
XM_006711629.2:c.56+193T>C	XP_006711692.1:n.56+193T>C
XM_011510149.1:c.545+193T>C	XP_011508451.1:n.545+193T>C
XM_011510149.2:c.545+193T>C	XP_011508451.1:n.545+193T>C
XM_011510150.1:c.56+193T>C	XP_011508452.1:n.56+193T>C
XM_011510150.3:c.56+193T>C	XP_011508452.1:n.56+193T>C
XM_011510151.1:c.56+193T>C	XP_011508453.1:n.56+193T>C
XM_017002807.1:c.56+193T>C	XP_016858296.1:n.56+193T>C
XM_024450864.1:c.56+193T>C	XP_024306632.1:n.56+193T>C