Canonical Allele Identifier: CA1206546973
Gene: GORAB HGNC NCBI

Linked Data

dbSNP Id: rs1438970077

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170553731G>T , CM000663.2:g.170553731G>T GRCh38
NC_000001.10:g.170522872G>T , CM000663.1:g.170522872G>T GRCh37
NC_000001.9:g.168789496G>T NCBI36
NG_012237.1:g.26610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000689173.1:c.*2377G>T ENSP00000509341.1:n.*2377G>T
ENST00000367763.8:c.*1269G>T MANE Select ENSP00000356737.4:n.*1269G>T
NM_152281.2:c.*1269G>T NP_689494.2:n.*1269G>T
NR_027397.1:n.2485G>T
XM_006711628.2:c.*1269G>T XP_006711691.1:n.*1269G>T
XM_006711629.2:c.*1269G>T XP_006711692.1:n.*1269G>T
XM_011510149.1:c.*1269G>T XP_011508451.1:n.*1269G>T
XM_011510150.1:c.*1269G>T XP_011508452.1:n.*1269G>T
XM_011510151.1:c.*1269G>T XP_011508453.1:n.*1269G>T
NM_001320252.1:c.*1269G>T NP_001307181.1:n.*1269G>T
XM_006711628.4:c.*1269G>T XP_006711691.1:n.*1269G>T
XM_011510149.2:c.*1269G>T XP_011508451.1:n.*1269G>T
XM_011510150.3:c.*1269G>T XP_011508452.1:n.*1269G>T
XM_017002807.1:c.*1269G>T XP_016858296.1:n.*1269G>T
XM_024450864.1:c.*1269G>T XP_024306632.1:n.*1269G>T
NM_001320252.2:c.*1269G>T NP_001307181.1:n.*1269G>T
NM_152281.3:c.*1269G>T MANE Select NP_689494.3:n.*1269G>T
NR_027397.2:n.2441G>T