Canonical Allele Identifier: CA341392823
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715706
ClinVar RCV Id: RCV002301445
dbSNP Id: rs777448957
gnomAD v2: 1-101005478-C-A
gnomAD v4: 1-100539922-C-A
MyVariant Identifiers: chr1:g.101005478C>A (hg19) chr1:g.100539922C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539922C>A , CM000663.2:g.100539922C>A GRCh38
NC_000001.10:g.101005478C>A , CM000663.1:g.101005478C>A GRCh37
NC_000001.9:g.100778066C>A NCBI36
NG_053134.1:g.6751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.956C>A MANE Select ENSP00000314223.4:p.Ala319Glu
ENST00000315033.4:c.956C>A ENSP00000314223.4:p.Ala319Glu
NM_022049.2:c.956C>A NP_071332.2:p.Ala319Glu
NM_022049.3:c.956C>A MANE Select NP_071332.2:p.Ala319Glu
Search 100 bp 5'
Search 100 bp 3'