Canonical Allele Identifier: CA1239008
Community Standard Title: NM_152281.3(GORAB):c.61+31C>T
Gene: GORAB HGNC NCBI
GORAB-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170532315C>T , CM000663.2:g.170532315C>T GRCh38
NC_000001.10:g.170501456C>T , CM000663.1:g.170501456C>T GRCh37
NC_000001.9:g.168768080C>T NCBI36
NG_012237.1:g.5194C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152281.3:c.61+31C>T (GORAB) MANE Select NP_689494.3:n.61+31C>T
ENST00000367763.8:c.61+31C>T (GORAB) MANE Select ENSP00000356737.4:n.61+31C>T
NM_001146039.1:c.136+31C>T (GORAB) NP_001139511.1:n.136+31C>T
NM_001146039.2:c.61+31C>T (GORAB) NP_001139511.2:n.61+31C>T
NM_001320252.1:c.-705+31C>T (GORAB) NP_001307181.1:n.-705+31C>T
NM_001320252.2:c.-705+31C>T (GORAB) NP_001307181.1:n.-705+31C>T
NM_152281.2:c.136+31C>T (GORAB) NP_689494.2:n.136+31C>T
NR_027397.1:n.163+31C>T (GORAB)
NR_027397.2:n.119+31C>T (GORAB)
NR_125958.1:n.162+133G>A (GORAB-AS1)
ENST00000367762.1:c.136+31C>T (GORAB) ENSP00000356736.1:n.136+31C>T
ENST00000367762.2:c.61+31C>T (GORAB) ENSP00000356736.2:n.61+31C>T
ENST00000367763.7:c.136+31C>T (GORAB) ENSP00000356737.3:n.136+31C>T
ENST00000498166.5:c.134+31C>T (GORAB)
ENST00000498166.6:c.61+31C>T (GORAB) ENSP00000473336.2:n.61+31C>T
ENST00000685515.1:c.61+31C>T (GORAB) ENSP00000509073.1:n.61+31C>T
ENST00000685976.1:n.166+331C>T (GORAB)
ENST00000686135.1:n.185C>T (GORAB)
ENST00000686870.1:c.61+31C>T (GORAB) ENSP00000510121.1:n.61+31C>T
ENST00000687370.1:n.119+31C>T (GORAB)
ENST00000687880.1:c.10+82C>T (GORAB) ENSP00000508486.1:n.10+82C>T
ENST00000688499.1:c.61+31C>T (GORAB) ENSP00000509581.1:n.61+31C>T
ENST00000688688.1:c.10+82C>T (GORAB) ENSP00000510426.1:n.10+82C>T
ENST00000689173.1:c.61+31C>T (GORAB) ENSP00000509341.1:n.61+31C>T
ENST00000690124.1:n.113+31C>T (GORAB)
ENST00000690898.1:n.138+31C>T (GORAB)
ENST00000691235.1:n.138+31C>T (GORAB)
ENST00000691574.1:n.95+31C>T (GORAB)
ENST00000692234.1:c.61+31C>T (GORAB) ENSP00000508508.1:n.61+31C>T
ENST00000692875.1:c.10+82C>T (GORAB) ENSP00000508785.1:n.10+82C>T
ENST00000693173.1:c.61+31C>T (GORAB) ENSP00000510143.1:n.61+31C>T
XM_006711628.2:c.-709+31C>T (GORAB) XP_006711691.1:n.-709+31C>T
XM_006711628.4:c.-709+31C>T (GORAB) XP_006711691.1:n.-709+31C>T
XM_006711629.2:c.-705+31C>T (GORAB) XP_006711692.1:n.-705+31C>T
XM_011510149.1:c.85+82C>T (GORAB) XP_011508451.1:n.85+82C>T
XM_011510149.2:c.85+82C>T (GORAB) XP_011508451.1:n.85+82C>T
XM_011510150.1:c.-597+31C>T (GORAB) XP_011508452.1:n.-597+31C>T
XM_011510150.3:c.-597+31C>T (GORAB) XP_011508452.1:n.-597+31C>T
XM_011510151.1:c.-409+82C>T (GORAB) XP_011508453.1:n.-409+82C>T
XM_017002807.1:c.-709+82C>T (GORAB) XP_016858296.1:n.-709+82C>T
XM_024450864.1:c.-593+31C>T (GORAB) XP_024306632.1:n.-593+31C>T