Canonical Allele Identifier: CA343162500

Gene: GORAB

Linked Data

• gnomAD v4: 1-170539422-A-C
• MyVariant Identifiers: chr1:g.170508563A>C (hg19) ; chr1:g.170539422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539422A>C , CM000663.2:g.170539422A>C	GRCh38
NC_000001.10:g.170508563A>C , CM000663.1:g.170508563A>C	GRCh37
NC_000001.9:g.168775187A>C	NCBI36
NG_012237.1:g.12301A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.243A>C
ENST00000685515.1:c.*138A>C	ENSP00000509073.1:n.*138A>C
ENST00000685976.1:n.379A>C
ENST00000686135.1:n.1734A>C
ENST00000686870.1:c.274A>C	ENSP00000510121.1:p.Thr92Pro
ENST00000687370.1:n.3290A>C
ENST00000687880.1:c.*268A>C	ENSP00000508486.1:n.*268A>C
ENST00000688499.1:c.*138A>C	ENSP00000509581.1:n.*138A>C
ENST00000688688.1:c.223A>C	ENSP00000510426.1:p.Thr75Pro
ENST00000689173.1:c.*268A>C	ENSP00000509341.1:n.*268A>C
ENST00000690124.1:n.438A>C
ENST00000690898.1:n.463A>C
ENST00000691199.1:n.191-3069A>C
ENST00000691235.1:n.139-3069A>C
ENST00000691574.1:n.308A>C
ENST00000692234.1:c.*138A>C	ENSP00000508508.1:n.*138A>C
ENST00000692855.1:n.425A>C
ENST00000692875.1:c.223A>C	ENSP00000508785.1:p.Thr75Pro
ENST00000693173.1:c.*268A>C	ENSP00000510143.1:n.*268A>C
ENST00000693373.1:n.262A>C
ENST00000367762.2:c.274A>C	ENSP00000356736.2:p.Thr92Pro
ENST00000367763.8:c.274A>C MANE Select	ENSP00000356737.4:p.Thr92Pro
ENST00000498166.6:c.*268A>C	ENSP00000473336.2:n.*268A>C
ENST00000367762.1:c.349A>C	ENSP00000356736.1:p.Thr117Pro
ENST00000367763.7:c.349A>C	ENSP00000356737.3:p.Thr117Pro
ENST00000465717.1:n.360A>C
ENST00000498166.5:c.647A>C
ENST00000498600.2:n.361A>C
NM_001146039.1:c.349A>C	NP_001139511.1:p.Thr117Pro
NM_152281.2:c.349A>C	NP_689494.2:p.Thr117Pro
NR_027397.1:n.376A>C
XM_006711628.2:c.-196A>C	XP_006711691.1:n.-196A>C
XM_006711629.2:c.-192A>C	XP_006711692.1:n.-192A>C
XM_011510149.1:c.298A>C	XP_011508451.1:p.Thr100Pro
XM_011510150.1:c.-196A>C	XP_011508452.1:n.-196A>C
XM_011510151.1:c.-196A>C	XP_011508453.1:n.-196A>C
NM_001320252.1:c.-192A>C	NP_001307181.1:n.-192A>C
XM_006711628.4:c.-196A>C	XP_006711691.1:n.-196A>C
XM_011510149.2:c.298A>C	XP_011508451.1:p.Thr100Pro
XM_011510150.3:c.-196A>C	XP_011508452.1:n.-196A>C
XM_017002807.1:c.-196A>C	XP_016858296.1:n.-196A>C
XM_024450864.1:c.-192A>C	XP_024306632.1:n.-192A>C
NM_001146039.2:c.274A>C	NP_001139511.2:p.Thr92Pro
NM_001320252.2:c.-192A>C	NP_001307181.1:n.-192A>C
NM_152281.3:c.274A>C MANE Select	NP_689494.3:p.Thr92Pro
NR_027397.2:n.332A>C