Canonical Allele Identifier: CA11952670
Gene: GABRP HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.170813419A>C
GRCh37 chr5:g.170240423A>C
gnomAD v2:
5:170240423 A / C
gnomAD v3:
5:170813419 A / C
gnomAD v4:
chr5-170813419-A-C
Joint Max Group AF 0.97554811 (EAS)
Genomes Max Group AF 0.97553863 (EAS)
Exomes Max Group AF 0.63099226 (NFE)
dbSNP:
11134654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.170813419A>C , CM000667.2:g.170813419A>C GRCh38
NC_000005.9:g.170240423A>C , CM000667.1:g.170240423A>C GRCh37
NC_000005.8:g.170173001A>C NCBI36
NG_052803.1:g.34701A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265294.9:c.*1161A>C MANE Select ENSP00000265294.4:n.*1161A>C
ENST00000265294.8:c.*1161A>C ENSP00000265294.4:n.*1161A>C
ENST00000518525.5:c.*1161A>C ENSP00000430100.1:n.*1161A>C
NM_001291985.1:c.*1426A>C NP_001278914.1:n.*1426A>C
NM_014211.2:c.*1161A>C NP_055026.1:n.*1161A>C
XM_005265872.2:c.*1161A>C XP_005265929.1:n.*1161A>C
XM_011534502.1:c.*1161A>C XP_011532804.1:n.*1161A>C
XM_011534503.1:c.*1161A>C XP_011532805.1:n.*1161A>C
XM_011534504.1:c.*1161A>C XP_011532806.1:n.*1161A>C
XM_011534505.1:c.*1161A>C XP_011532807.1:n.*1161A>C
XM_011534506.1:c.*1426A>C XP_011532808.1:n.*1426A>C
XM_024446012.1:c.*1161A>C XP_024301780.1:n.*1161A>C
NM_014211.3:c.*1161A>C MANE Select NP_055026.1:n.*1161A>C
NM_001291985.2:c.*1426A>C NP_001278914.1:n.*1426A>C
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